MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 9 transcript(s)...
Querying Taster for transcript #1: ENST00000345136
Querying Taster for transcript #2: ENST00000357649
Querying Taster for transcript #3: ENST00000354589
Querying Taster for transcript #4: ENST00000398774
Querying Taster for transcript #5: ENST00000322810
Querying Taster for transcript #6: ENST00000354958
Querying Taster for transcript #7: ENST00000356346
Querying Taster for transcript #8: ENST00000436759
Querying Taster for transcript #9: ENST00000527096
MT speed 0 s - this script 8.101336 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
PLEC	polymorphism_automatic	0.000272840421585041	simple_aae		affected		S2654P	single base exchange	rs7833924		show file
PLEC	polymorphism_automatic	0.000272840421585041	simple_aae		affected		S2658P	single base exchange	rs7833924		show file
PLEC	polymorphism_automatic	0.000272840421585041	simple_aae		affected		S2654P	single base exchange	rs7833924		show file
PLEC	polymorphism_automatic	0.000272840421585041	simple_aae		affected		S2622P	single base exchange	rs7833924		show file
PLEC	polymorphism_automatic	0.000272840421585041	simple_aae		affected		S2632P	single base exchange	rs7833924		show file
PLEC	polymorphism_automatic	0.000272840421585041	simple_aae		affected		S2640P	single base exchange	rs7833924		show file
PLEC	polymorphism_automatic	0.000272840421585041	simple_aae		affected		S2681P	single base exchange	rs7833924		show file
PLEC	polymorphism_automatic	0.000272840421585041	simple_aae		affected		S2677P	single base exchange	rs7833924		show file
PLEC	polymorphism_automatic	0.000822017888163051	simple_aae		affected		S2791P	single base exchange	rs7833924		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999727159578415 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:144996029A>GN/A show variant in all transcripts IGV

HGNC symbol

PLEC

Ensembl transcript ID

ENST00000345136

Genbank transcript ID

NM_201384

UniProt peptide

Q15149

alteration type

single base exchange

alteration region

CDS

DNA changes

c.7960T>C
cDNA.8089T>C
g.54874T>C

AA changes

S2654P Score: 74 explain score(s)

position(s) of altered AA
if AA alteration in CDS

2654

frameshift

known variant

Reference ID: rs7833924

database	homozygous (G/G)	heterozygous	allele carriers
1000G	736	865	1601
ExAC	10289	12189	22478

regulatory features

Promoter Associated, Regulatory Feature, Promoter like regulatory feature
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H2BK5me1, Histone, Histone 2B Lysine 5 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.03	0.983
	0.621	0.98
(flanking)	0.034	0.978

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	54876	wt: 0.7442 / mu: 0.7665 (marginal change - not scored)	wt: GTGTCAGCTCAGAGG mu: GTGCCAGCTCAGAGG	GTCA\|gctc
Donor marginally increased	54865	wt: 0.9267 / mu: 0.9722 (marginal change - not scored)	wt: TGCGGCGGAAGGTGT mu: TGCGGCGGAAGGTGC	CGGC\|ggaa
Donor gained	54878	0.51	mu: GCCAGCTCAGAGGCT	CAGC\|tcag

distance from splice site

535

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

2654

mutated

not conserved

2654

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000000388

2791

Fcatus

not conserved

ENSFCAG00000001046

3113

Mmusculus

not conserved

ENSMUSG00000022565

2799

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000003715

2794

Drerio

not conserved

ENSDARG00000021987

2666

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1469	2756	COILED	Potential.	lost
1471	2755	REGION	Central fibrous rod domain.	lost
2755	2755	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2756	4684	REGION	Globular 2.	might get lost (downstream of altered splice site)
2814	2814	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2826	2863	REPEAT	Plectin 1.	might get lost (downstream of altered splice site)
2841	2841	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2864	2901	REPEAT	Plectin 2.	might get lost (downstream of altered splice site)
2902	2939	REPEAT	Plectin 3.	might get lost (downstream of altered splice site)
2940	2977	REPEAT	Plectin 4.	might get lost (downstream of altered splice site)
2981	3015	REPEAT	Plectin 5.	might get lost (downstream of altered splice site)
3027	3027	CONFLICT	K -> E (in Ref. 2; AAB05427/AAB05428).	might get lost (downstream of altered splice site)
3033	3033	MOD_RES	Phosphotyrosine (By similarity).	might get lost (downstream of altered splice site)
3091	3091	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
3116	3153	REPEAT	Plectin 6.	might get lost (downstream of altered splice site)
3154	3191	REPEAT	Plectin 7.	might get lost (downstream of altered splice site)
3192	3229	REPEAT	Plectin 8.	might get lost (downstream of altered splice site)
3230	3267	REPEAT	Plectin 9.	might get lost (downstream of altered splice site)
3268	3305	REPEAT	Plectin 10.	might get lost (downstream of altered splice site)
3306	3343	REPEAT	Plectin 11.	might get lost (downstream of altered splice site)
3310	3310	CONFLICT	A -> E (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3361	3361	CONFLICT	L -> F (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3362	3362	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
3408	3408	CONFLICT	L -> F (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3420	3420	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
3447	3447	CONFLICT	A -> S (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3485	3522	REPEAT	Plectin 12.	might get lost (downstream of altered splice site)
3523	3560	REPEAT	Plectin 13.	might get lost (downstream of altered splice site)
3531	3531	CONFLICT	A -> G (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3561	3598	REPEAT	Plectin 14.	might get lost (downstream of altered splice site)
3580	3580	CONFLICT	S -> R (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3589	3589	CONFLICT	Q -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3596	3596	CONFLICT	Q -> E (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3599	3636	REPEAT	Plectin 15.	might get lost (downstream of altered splice site)
3616	3616	CONFLICT	H -> N (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3640	3674	REPEAT	Plectin 16.	might get lost (downstream of altered splice site)
3686	3686	CONFLICT	A -> V (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3786	3786	CONFLICT	A -> G (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3808	3808	CONFLICT	R -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3816	3816	CONFLICT	A -> G (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3820	3857	REPEAT	Plectin 17.	might get lost (downstream of altered splice site)
3821	3821	CONFLICT	C -> F (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3858	3895	REPEAT	Plectin 18.	might get lost (downstream of altered splice site)
3896	3933	REPEAT	Plectin 19.	might get lost (downstream of altered splice site)
3915	3915	CONFLICT	Q -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3934	3971	REPEAT	Plectin 20.	might get lost (downstream of altered splice site)
3975	4008	REPEAT	Plectin 21.	might get lost (downstream of altered splice site)
3999	3999	CONFLICT	R -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
4007	4007	CONFLICT	T -> S (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
4030	4030	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4063	4100	REPEAT	Plectin 22.	might get lost (downstream of altered splice site)
4101	4138	REPEAT	Plectin 23.	might get lost (downstream of altered splice site)
4139	4176	REPEAT	Plectin 24.	might get lost (downstream of altered splice site)
4155	4155	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4177	4214	REPEAT	Plectin 25.	might get lost (downstream of altered splice site)
4218	4252	REPEAT	Plectin 26.	might get lost (downstream of altered splice site)
4250	4300	REGION	Binding to intermediate filaments (By similarity).	might get lost (downstream of altered splice site)
4265	4305	REPEAT	Plectin 27.	might get lost (downstream of altered splice site)
4319	4356	REPEAT	Plectin 28.	might get lost (downstream of altered splice site)
4382	4382	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4384	4384	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4385	4385	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4386	4386	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4389	4389	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4390	4390	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4391	4391	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
4392	4392	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4393	4393	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4396	4396	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4400	4400	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4402	4402	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4408	4445	REPEAT	Plectin 29.	might get lost (downstream of altered splice site)
4411	4411	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4446	4483	REPEAT	Plectin 30.	might get lost (downstream of altered splice site)
4467	4467	CONFLICT	F -> L (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
4484	4521	REPEAT	Plectin 31.	might get lost (downstream of altered splice site)
4522	4559	REPEAT	Plectin 32.	might get lost (downstream of altered splice site)
4539	4539	MOD_RES	Phosphothreonine; by CDK1 (By similarity).	might get lost (downstream of altered splice site)
4560	4597	REPEAT	Plectin 33.	might get lost (downstream of altered splice site)
4611	4611	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4613	4613	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4615	4615	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4618	4618	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4620	4620	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4622	4622	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4623	4623	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4625	4640	REGION	4 X 4 AA tandem repeats of G-S-R-X.	might get lost (downstream of altered splice site)
4626	4626	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4628	4628	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4642	4642	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4658	4658	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4675	4675	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

13644 / 13644

position (AA) of stopcodon in wt / mu AA sequence

4548 / 4548

position of stopcodon in wt / mu cDNA

13773 / 13773

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

130 / 130

chromosome

strand

-1

last intron/exon boundary

7555

theoretical NMD boundary in CDS

7375

length of CDS

13644

coding sequence (CDS) position

7960

cDNA position
(for ins/del: last normal base / first normal base)

8089

gDNA position
(for ins/del: last normal base / first normal base)

54874

chromosomal position
(for ins/del: last normal base / first normal base)

144996029

original gDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGTCAGCTCAGAGGCTGCAGGAG

altered gDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGCCAGCTCAGAGGCTGCAGGAG

original cDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGTCAGCTCAGAGGCTGCAGGAG

altered cDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGCCAGCTCAGAGGCTGCAGGAG

wildtype AA sequence

MSQHQLRVPQ PEGLGRKRTS SEDNLYLAVL RASEGKKDER DRVQKKTFTK WVNKHLIKAQ
RHISDLYEDL RDGHNLISLL EVLSGDSLPR EKGRMRFHKL QNVQIALDYL RHRQVKLVNI
RNDDIADGNP KLTLGLIWTI ILHFQISDIQ VSGQSEDMTA KEKLLLWSQR MVEGYQGLRC
DNFTSSWRDG RLFNAIIHRH KPLLIDMNKV YRQTNLENLD QAFSVAERDL GVTRLLDPED
VDVPQPDEKS IITYVSSLYD AMPRVPDVQD GVRANELQLR WQEYRELVLL LLQWMRHHTA
AFEERRFPSS FEEIEILWSQ FLKFKEMELP AKEADKNRSK GIYQSLEGAV QAGQLKVPPG
YHPLDVEKEW GKLHVAILER EKQLRSEFER LECLQRIVTK LQMEAGLCEE QLNQADALLQ
SDVRLLAAGK VPQRAGEVER DLDKADSMIR LLFNDVQTLK DGRHPQGEQM YRRVYRLHER
LVAIRTEYNL RLKAGVAAPA TQVAQVTLQS VQRRPELEDS TLRYLQDLLA WVEENQHRVD
GAEWGVDLPS VEAQLGSHRG LHQSIEEFRA KIERARSDEG QLSPATRGAY RDCLGRLDLQ
YAKLLNSSKA RLRSLESLHS FVAAATKELM WLNEKEEEEV GFDWSDRNTN MTAKKESYSA
LMRELELKEK KIKELQNAGD RLLREDHPAR PTVESFQAAL QTQWSWMLQL CCCIEAHLKE
NAAYFQFFSD VREAEGQLQK LQEALRRKYS CDRSATVTRL EDLLQDAQDE KEQLNEYKGH
LSGLAKRAKA VVQLKPRHPA HPMRGRLPLL AVCDYKQVEV TVHKGDECQL VGPAQPSHWK
VLSSSGSEAA VPSVCFLVPP PNQEAQEAVT RLEAQHQALV TLWHQLHVDM KSLLAWQSLR
RDVQLIRSWS LATFRTLKPE EQRQALHSLE LHYQAFLRDS QDAGGFGPED RLMAEREYGS
CSHHYQQLLQ SLEQGAQEES RCQRCISELK DIRLQLEACE TRTVHRLRLP LDKEPARECA
QRIAEQQKAQ AEVEGLGKGV ARLSAEAEKV LALPEPSPAA PTLRSELELT LGKLEQVRSL
SAIYLEKLKT ISLVIRGTQG AEEVLRAHEE QLKEAQAVPA TLPELEATKA SLKKLRAQAE
AQQPTFDALR DELRGAQEVG ERLQQRHGER DVEVERWRER VAQLLERWQA VLAQTDVRQR
ELEQLGRQLR YYRESADPLG AWLQDARRRQ EQIQAMPLAD SQAVREQLRQ EQALLEEIER
HGEKVEECQR FAKQYINAIK DYELQLVTYK AQLEPVASPA KKPKVQSGSE SVIQEYVDLR
THYSELTTLT SQYIKFISET LRRMEEEERL AEQQRAEERE RLAEVEAALE KQRQLAEAHA
QAKAQAEREA KELQQRMQEE VVRREEAAVD AQQQKRSIQE ELQQLRQSSE AEIQAKARQA
EAAERSRLRI EEEIRVVRLQ LEATERQRGG AEGELQALRA RAEEAEAQKR QAQEEAERLR
RQVQDESQRK RQAEVELASR VKAEAEAARE KQRALQALEE LRLQAEEAER RLRQAEVERA
RQVQVALETA QRSAEAELQS KRASFAEKTA QLERSLQEEH VAVAQLREEA ERRAQQQAEA
ERAREEAERE LERWQLKANE ALRLRLQAEE VAQQKSLAQA EAEKQKEEAE REARRRGKAE
EQAVRQRELA EQELEKQRQL AEGTAQQRLA AEQELIRLRA ETEQGEQQRQ LLEEELARLQ
REAAAATQKR QELEAELAKV RAEMEVLLAS KARAEEESRS TSEKSKQRLE AEAGRFRELA
EEAARLRALA EEAKRQRQLA EEDAARQRAE AERVLAEKLA AIGEATRLKT EAEIALKEKE
AENERLRRLA EDEAFQRRRL EEQAAQHKAD IEERLAQLRK ASDSELERQK GLVEDTLRQR
RQVEEEILAL KASFEKAAAG KAELELELGR IRSNAEDTLR SKEQAELEAA RQRQLAAEEE
RRRREAEERV QKSLAAEEEA ARQRKAALEE VERLKAKVEE ARRLRERAEQ ESARQLQLAQ
EAAQKRLQAE EKAHAFAVQQ KEQELQQTLQ QEQSVLDQLR GEAEAARRAA EEAEEARVQA
EREAAQSRRQ VEEAERLKQS AEEQAQARAQ AQAAAEKLRK EAEQEAARRA QAEQAALRQK
QAADAEMEKH KKFAEQTLRQ KAQVEQELTT LRLQLEETDH QKNLLDEELQ RLKAEATEAA
RQRSQVEEEL FSVRVQMEEL SKLKARIEAE NRALILRDKD NTQRFLQEEA EKMKQVAEEA
ARLSVAAQEA ARLRQLAEED LAQQRALAEK MLKEKMQAVQ EATRLKAEAE LLQQQKELAQ
EQARRLQEDK EQMAQQLAEE TQGFQRTLEA ERQRQLEMSA EAERLKLRVA EMSRAQARAE
EDAQRFRKQA EEIGEKLHRT ELATQEKVTL VQTLEIQRQQ SDHDAERLRE AIAELEREKE
KLQQEAKLLQ LKSEEMQTVQ QEQLLQETQA LQQSFLSEKD SLLQRERFIE QEKAKLEQLF
QDEVAKAQQL REEQQRQQQQ MEQERQRLVA SMEEARRRQH EAEEGVRRKQ EELQQLEQQR
RQQEELLAEE NQRLREQLQL LEEQHRAALA HSEEVTASQV AATKTLPNGR DALDGPAAEA
EPEHSFDGLR RKVSAQRLQE AGILSAEELQ RLAQGHTTVD ELARREDVRH YLQGRSSIAG
LLLKATNEKL SVYAALQRQL LSPGTALILL EAQAASGFLL DPVRNRRLTV NEAVKEGVVG
PELHHKLLSA ERAVTGYKDP YTGQQISLFQ AMQKGLIVRE HGIRLLEAQI ATGGVIDPVH
SHRVPVDVAY RRGYFDEEMN RVLADPSDDT KGFFDPNTHE NLTYLQLLER CVEDPETGLC
LLPLTDKAAK GGELVYTDSE ARDVFEKATV SAPFGKFQGK TVTIWEIINS EYFTAEQRRD
LLRQFRTGRI TVEKIIKIII TVVEEQEQKG RLCFEGLRSL VPAAELLESR VIDRELYQQL
QRGERSVRDV AEVDTVRRAL RGANVIAGVW LEEAGQKLSI YNALKKDLLP SDMAVALLEA
QAGTGHIIDP ATSARLTVDE AVRAGLVGPE FHEKLLSAEK AVTGYRDPYT GQSVSLFQAL
KKGLIPREQG LRLLDAQLST GGIVDPSKSH RVPLDVACAR GCLDEETSRA LSAPRADAKA
YSDPSTGEPA TYGELQQRCR PDQLTGLSLL PLSEKAARAR QEELYSELQA RETFEKTPVE
VPVGGFKGRT VTVWELISSE YFTAEQRQEL LRQFRTGKVT VEKVIKILIT IVEEVETLRQ
ERLSFSGLRA PVPASELLAS GVLSRAQFEQ LKDGKTTVKD LSELGSVRTL LQGSGCLAGI
YLEDTKEKVS IYEAMRRGLL RATTAALLLE AQAATGFLVD PVRNQRLYVH EAVKAGVVGP
ELHEQLLSAE KAVTGYRDPY SGSTISLFQA MQKGLVLRQH GIRLLEAQIA TGGIIDPVHS
HRVPVDVAYQ RGYFSEEMNR VLADPSDDTK GFFDPNTHEN LTYRQLLERC VEDPETGLRL
LPLKGAEKAE VVETTQVYTE EETRRAFEET QIDIPGGGSH GGSTMSLWEV MQSDLIPEEQ
RAQLMADFQA GRVTKERMII IIIEIIEKTE IIRQQGLASY DYVRRRLTAE DLFEARIISL
ETYNLLREGT RSLREALEAE SAWCYLYGTG SVAGVYLPGS RQTLSIYQAL KKGLLSAEVA
RLLLEAQAAT GFLLDPVKGE RLTVDEAVRK GLVGPELHDR LLSAERAVTG YRDPYTEQTI
SLFQAMKKEL IPTEEALRLL DAQLATGGIV DPRLGFHLPL EVAYQRGYLN KDTHDQLSEP
SEVRSYVDPS TDERLSYTQL LRRCRRDDGT GQLLLPLSDA RKLTFRGLRK QITMEELVRS
QVMDEATALQ LREGLTSIEE VTKNLQKFLE GTSCIAGVFV DATKERLSVY QAMKKGIIRP
GTAFELLEAQ AATGYVIDPI KGLKLTVEEA VRMGIVGPEF KDKLLSAERA VTGYKDPYSG
KLISLFQAMK KGLILKDHGI RLLEAQIATG GIIDPEESHR LPVEVAYKRG LFDEEMNEIL
TDPSDDTKGF FDPNTEENLT YLQLMERCIT DPQTGLCLLP LKEKKRERKT SSKSSVRKRR
VVIVDPETGK EMSVYEAYRK GLIDHQTYLE LSEQECEWEE ITISSSDGVV KSMIIDRRSG
RQYDIDDAIA KNLIDRSALD QYRAGTLSIT EFADMLSGNA GGFRSRSSSV GSSSSYPISP
AVSRTQLASW SDPTEETGPV AGILDTETLE KVSITEAMHR NLVDNITGQR LLEAQACTGG
IIDPSTGERF PVTDAVNKGL VDKIMVDRIN LAQKAFCGFE DPRTKTKMSA AQALKKGWLY
YEAGQRFLEV QYLTGGLIEP DTPGRVPLDE ALQRGTVDAR TAQKLRDVGA YSKYLTCPKT
KLKISYKDAL DRSMVEEGTG LRLLEAAAQS TKGYYSPYSV SGSGSTAGSR TGSRTGSRAG
SRRGSFDATG SGFSMTFSSS SYSSSGYGRR YASGSSASLG GPESAVA*

mutated AA sequence

MSQHQLRVPQ PEGLGRKRTS SEDNLYLAVL RASEGKKDER DRVQKKTFTK WVNKHLIKAQ
RHISDLYEDL RDGHNLISLL EVLSGDSLPR EKGRMRFHKL QNVQIALDYL RHRQVKLVNI
RNDDIADGNP KLTLGLIWTI ILHFQISDIQ VSGQSEDMTA KEKLLLWSQR MVEGYQGLRC
DNFTSSWRDG RLFNAIIHRH KPLLIDMNKV YRQTNLENLD QAFSVAERDL GVTRLLDPED
VDVPQPDEKS IITYVSSLYD AMPRVPDVQD GVRANELQLR WQEYRELVLL LLQWMRHHTA
AFEERRFPSS FEEIEILWSQ FLKFKEMELP AKEADKNRSK GIYQSLEGAV QAGQLKVPPG
YHPLDVEKEW GKLHVAILER EKQLRSEFER LECLQRIVTK LQMEAGLCEE QLNQADALLQ
SDVRLLAAGK VPQRAGEVER DLDKADSMIR LLFNDVQTLK DGRHPQGEQM YRRVYRLHER
LVAIRTEYNL RLKAGVAAPA TQVAQVTLQS VQRRPELEDS TLRYLQDLLA WVEENQHRVD
GAEWGVDLPS VEAQLGSHRG LHQSIEEFRA KIERARSDEG QLSPATRGAY RDCLGRLDLQ
YAKLLNSSKA RLRSLESLHS FVAAATKELM WLNEKEEEEV GFDWSDRNTN MTAKKESYSA
LMRELELKEK KIKELQNAGD RLLREDHPAR PTVESFQAAL QTQWSWMLQL CCCIEAHLKE
NAAYFQFFSD VREAEGQLQK LQEALRRKYS CDRSATVTRL EDLLQDAQDE KEQLNEYKGH
LSGLAKRAKA VVQLKPRHPA HPMRGRLPLL AVCDYKQVEV TVHKGDECQL VGPAQPSHWK
VLSSSGSEAA VPSVCFLVPP PNQEAQEAVT RLEAQHQALV TLWHQLHVDM KSLLAWQSLR
RDVQLIRSWS LATFRTLKPE EQRQALHSLE LHYQAFLRDS QDAGGFGPED RLMAEREYGS
CSHHYQQLLQ SLEQGAQEES RCQRCISELK DIRLQLEACE TRTVHRLRLP LDKEPARECA
QRIAEQQKAQ AEVEGLGKGV ARLSAEAEKV LALPEPSPAA PTLRSELELT LGKLEQVRSL
SAIYLEKLKT ISLVIRGTQG AEEVLRAHEE QLKEAQAVPA TLPELEATKA SLKKLRAQAE
AQQPTFDALR DELRGAQEVG ERLQQRHGER DVEVERWRER VAQLLERWQA VLAQTDVRQR
ELEQLGRQLR YYRESADPLG AWLQDARRRQ EQIQAMPLAD SQAVREQLRQ EQALLEEIER
HGEKVEECQR FAKQYINAIK DYELQLVTYK AQLEPVASPA KKPKVQSGSE SVIQEYVDLR
THYSELTTLT SQYIKFISET LRRMEEEERL AEQQRAEERE RLAEVEAALE KQRQLAEAHA
QAKAQAEREA KELQQRMQEE VVRREEAAVD AQQQKRSIQE ELQQLRQSSE AEIQAKARQA
EAAERSRLRI EEEIRVVRLQ LEATERQRGG AEGELQALRA RAEEAEAQKR QAQEEAERLR
RQVQDESQRK RQAEVELASR VKAEAEAARE KQRALQALEE LRLQAEEAER RLRQAEVERA
RQVQVALETA QRSAEAELQS KRASFAEKTA QLERSLQEEH VAVAQLREEA ERRAQQQAEA
ERAREEAERE LERWQLKANE ALRLRLQAEE VAQQKSLAQA EAEKQKEEAE REARRRGKAE
EQAVRQRELA EQELEKQRQL AEGTAQQRLA AEQELIRLRA ETEQGEQQRQ LLEEELARLQ
REAAAATQKR QELEAELAKV RAEMEVLLAS KARAEEESRS TSEKSKQRLE AEAGRFRELA
EEAARLRALA EEAKRQRQLA EEDAARQRAE AERVLAEKLA AIGEATRLKT EAEIALKEKE
AENERLRRLA EDEAFQRRRL EEQAAQHKAD IEERLAQLRK ASDSELERQK GLVEDTLRQR
RQVEEEILAL KASFEKAAAG KAELELELGR IRSNAEDTLR SKEQAELEAA RQRQLAAEEE
RRRREAEERV QKSLAAEEEA ARQRKAALEE VERLKAKVEE ARRLRERAEQ ESARQLQLAQ
EAAQKRLQAE EKAHAFAVQQ KEQELQQTLQ QEQSVLDQLR GEAEAARRAA EEAEEARVQA
EREAAQSRRQ VEEAERLKQS AEEQAQARAQ AQAAAEKLRK EAEQEAARRA QAEQAALRQK
QAADAEMEKH KKFAEQTLRQ KAQVEQELTT LRLQLEETDH QKNLLDEELQ RLKAEATEAA
RQRSQVEEEL FSVRVQMEEL SKLKARIEAE NRALILRDKD NTQRFLQEEA EKMKQVAEEA
ARLSVAAQEA ARLRQLAEED LAQQRALAEK MLKEKMQAVQ EATRLKAEAE LLQQQKELAQ
EQARRLQEDK EQMAQQLAEE TQGFQRTLEA ERQRQLEMSA EAERLKLRVA EMSRAQARAE
EDAQRFRKQA EEIGEKLHRT ELATQEKVTL VQTLEIQRQQ SDHDAERLRE AIAELEREKE
KLQQEAKLLQ LKSEEMQTVQ QEQLLQETQA LQQSFLSEKD SLLQRERFIE QEKAKLEQLF
QDEVAKAQQL REEQQRQQQQ MEQERQRLVA SMEEARRRQH EAEEGVRRKQ EELQQLEQQR
RQQEELLAEE NQRLREQLQL LEEQHRAALA HSEEVTASQV AATKTLPNGR DALDGPAAEA
EPEHSFDGLR RKVPAQRLQE AGILSAEELQ RLAQGHTTVD ELARREDVRH YLQGRSSIAG
LLLKATNEKL SVYAALQRQL LSPGTALILL EAQAASGFLL DPVRNRRLTV NEAVKEGVVG
PELHHKLLSA ERAVTGYKDP YTGQQISLFQ AMQKGLIVRE HGIRLLEAQI ATGGVIDPVH
SHRVPVDVAY RRGYFDEEMN RVLADPSDDT KGFFDPNTHE NLTYLQLLER CVEDPETGLC
LLPLTDKAAK GGELVYTDSE ARDVFEKATV SAPFGKFQGK TVTIWEIINS EYFTAEQRRD
LLRQFRTGRI TVEKIIKIII TVVEEQEQKG RLCFEGLRSL VPAAELLESR VIDRELYQQL
QRGERSVRDV AEVDTVRRAL RGANVIAGVW LEEAGQKLSI YNALKKDLLP SDMAVALLEA
QAGTGHIIDP ATSARLTVDE AVRAGLVGPE FHEKLLSAEK AVTGYRDPYT GQSVSLFQAL
KKGLIPREQG LRLLDAQLST GGIVDPSKSH RVPLDVACAR GCLDEETSRA LSAPRADAKA
YSDPSTGEPA TYGELQQRCR PDQLTGLSLL PLSEKAARAR QEELYSELQA RETFEKTPVE
VPVGGFKGRT VTVWELISSE YFTAEQRQEL LRQFRTGKVT VEKVIKILIT IVEEVETLRQ
ERLSFSGLRA PVPASELLAS GVLSRAQFEQ LKDGKTTVKD LSELGSVRTL LQGSGCLAGI
YLEDTKEKVS IYEAMRRGLL RATTAALLLE AQAATGFLVD PVRNQRLYVH EAVKAGVVGP
ELHEQLLSAE KAVTGYRDPY SGSTISLFQA MQKGLVLRQH GIRLLEAQIA TGGIIDPVHS
HRVPVDVAYQ RGYFSEEMNR VLADPSDDTK GFFDPNTHEN LTYRQLLERC VEDPETGLRL
LPLKGAEKAE VVETTQVYTE EETRRAFEET QIDIPGGGSH GGSTMSLWEV MQSDLIPEEQ
RAQLMADFQA GRVTKERMII IIIEIIEKTE IIRQQGLASY DYVRRRLTAE DLFEARIISL
ETYNLLREGT RSLREALEAE SAWCYLYGTG SVAGVYLPGS RQTLSIYQAL KKGLLSAEVA
RLLLEAQAAT GFLLDPVKGE RLTVDEAVRK GLVGPELHDR LLSAERAVTG YRDPYTEQTI
SLFQAMKKEL IPTEEALRLL DAQLATGGIV DPRLGFHLPL EVAYQRGYLN KDTHDQLSEP
SEVRSYVDPS TDERLSYTQL LRRCRRDDGT GQLLLPLSDA RKLTFRGLRK QITMEELVRS
QVMDEATALQ LREGLTSIEE VTKNLQKFLE GTSCIAGVFV DATKERLSVY QAMKKGIIRP
GTAFELLEAQ AATGYVIDPI KGLKLTVEEA VRMGIVGPEF KDKLLSAERA VTGYKDPYSG
KLISLFQAMK KGLILKDHGI RLLEAQIATG GIIDPEESHR LPVEVAYKRG LFDEEMNEIL
TDPSDDTKGF FDPNTEENLT YLQLMERCIT DPQTGLCLLP LKEKKRERKT SSKSSVRKRR
VVIVDPETGK EMSVYEAYRK GLIDHQTYLE LSEQECEWEE ITISSSDGVV KSMIIDRRSG
RQYDIDDAIA KNLIDRSALD QYRAGTLSIT EFADMLSGNA GGFRSRSSSV GSSSSYPISP
AVSRTQLASW SDPTEETGPV AGILDTETLE KVSITEAMHR NLVDNITGQR LLEAQACTGG
IIDPSTGERF PVTDAVNKGL VDKIMVDRIN LAQKAFCGFE DPRTKTKMSA AQALKKGWLY
YEAGQRFLEV QYLTGGLIEP DTPGRVPLDE ALQRGTVDAR TAQKLRDVGA YSKYLTCPKT
KLKISYKDAL DRSMVEEGTG LRLLEAAAQS TKGYYSPYSV SGSGSTAGSR TGSRTGSRAG
SRRGSFDATG SGFSMTFSSS SYSSSGYGRR YASGSSASLG GPESAVA*

speed

1.15 s

All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999727159578415 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:144996029A>GN/A show variant in all transcripts IGV

HGNC symbol

PLEC

Ensembl transcript ID

ENST00000357649

Genbank transcript ID

NM_201383

UniProt peptide

Q15149

alteration type

single base exchange

alteration region

CDS

DNA changes

c.7972T>C
cDNA.7981T>C
g.54874T>C

AA changes

S2658P Score: 74 explain score(s)

position(s) of altered AA
if AA alteration in CDS

2658

frameshift

known variant

Reference ID: rs7833924

database	homozygous (G/G)	heterozygous	allele carriers
1000G	736	865	1601
ExAC	10289	12189	22478

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.03	0.983
	0.621	0.98
(flanking)	0.034	0.978

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	54876	wt: 0.7442 / mu: 0.7665 (marginal change - not scored)	wt: GTGTCAGCTCAGAGG mu: GTGCCAGCTCAGAGG	GTCA\|gctc
Donor marginally increased	54865	wt: 0.9267 / mu: 0.9722 (marginal change - not scored)	wt: TGCGGCGGAAGGTGT mu: TGCGGCGGAAGGTGC	CGGC\|ggaa
Donor gained	54878	0.51	mu: GCCAGCTCAGAGGCT	CAGC\|tcag

distance from splice site

535

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

2658

mutated

not conserved

2658

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000000388

2791

Fcatus

not conserved

ENSFCAG00000001046

3113

Mmusculus

not conserved

ENSMUSG00000022565

2799

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000003715

2794

Drerio

not conserved

ENSDARG00000021987

2673

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1469	2756	COILED	Potential.	lost
1471	2755	REGION	Central fibrous rod domain.	lost
2755	2755	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2756	4684	REGION	Globular 2.	might get lost (downstream of altered splice site)
2814	2814	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2826	2863	REPEAT	Plectin 1.	might get lost (downstream of altered splice site)
2841	2841	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2864	2901	REPEAT	Plectin 2.	might get lost (downstream of altered splice site)
2902	2939	REPEAT	Plectin 3.	might get lost (downstream of altered splice site)
2940	2977	REPEAT	Plectin 4.	might get lost (downstream of altered splice site)
2981	3015	REPEAT	Plectin 5.	might get lost (downstream of altered splice site)
3027	3027	CONFLICT	K -> E (in Ref. 2; AAB05427/AAB05428).	might get lost (downstream of altered splice site)
3033	3033	MOD_RES	Phosphotyrosine (By similarity).	might get lost (downstream of altered splice site)
3091	3091	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
3116	3153	REPEAT	Plectin 6.	might get lost (downstream of altered splice site)
3154	3191	REPEAT	Plectin 7.	might get lost (downstream of altered splice site)
3192	3229	REPEAT	Plectin 8.	might get lost (downstream of altered splice site)
3230	3267	REPEAT	Plectin 9.	might get lost (downstream of altered splice site)
3268	3305	REPEAT	Plectin 10.	might get lost (downstream of altered splice site)
3306	3343	REPEAT	Plectin 11.	might get lost (downstream of altered splice site)
3310	3310	CONFLICT	A -> E (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3361	3361	CONFLICT	L -> F (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3362	3362	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
3408	3408	CONFLICT	L -> F (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3420	3420	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
3447	3447	CONFLICT	A -> S (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3485	3522	REPEAT	Plectin 12.	might get lost (downstream of altered splice site)
3523	3560	REPEAT	Plectin 13.	might get lost (downstream of altered splice site)
3531	3531	CONFLICT	A -> G (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3561	3598	REPEAT	Plectin 14.	might get lost (downstream of altered splice site)
3580	3580	CONFLICT	S -> R (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3589	3589	CONFLICT	Q -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3596	3596	CONFLICT	Q -> E (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3599	3636	REPEAT	Plectin 15.	might get lost (downstream of altered splice site)
3616	3616	CONFLICT	H -> N (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3640	3674	REPEAT	Plectin 16.	might get lost (downstream of altered splice site)
3686	3686	CONFLICT	A -> V (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3786	3786	CONFLICT	A -> G (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3808	3808	CONFLICT	R -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3816	3816	CONFLICT	A -> G (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3820	3857	REPEAT	Plectin 17.	might get lost (downstream of altered splice site)
3821	3821	CONFLICT	C -> F (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3858	3895	REPEAT	Plectin 18.	might get lost (downstream of altered splice site)
3896	3933	REPEAT	Plectin 19.	might get lost (downstream of altered splice site)
3915	3915	CONFLICT	Q -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3934	3971	REPEAT	Plectin 20.	might get lost (downstream of altered splice site)
3975	4008	REPEAT	Plectin 21.	might get lost (downstream of altered splice site)
3999	3999	CONFLICT	R -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
4007	4007	CONFLICT	T -> S (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
4030	4030	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4063	4100	REPEAT	Plectin 22.	might get lost (downstream of altered splice site)
4101	4138	REPEAT	Plectin 23.	might get lost (downstream of altered splice site)
4139	4176	REPEAT	Plectin 24.	might get lost (downstream of altered splice site)
4155	4155	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4177	4214	REPEAT	Plectin 25.	might get lost (downstream of altered splice site)
4218	4252	REPEAT	Plectin 26.	might get lost (downstream of altered splice site)
4250	4300	REGION	Binding to intermediate filaments (By similarity).	might get lost (downstream of altered splice site)
4265	4305	REPEAT	Plectin 27.	might get lost (downstream of altered splice site)
4319	4356	REPEAT	Plectin 28.	might get lost (downstream of altered splice site)
4382	4382	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4384	4384	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4385	4385	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4386	4386	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4389	4389	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4390	4390	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4391	4391	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
4392	4392	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4393	4393	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4396	4396	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4400	4400	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4402	4402	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4408	4445	REPEAT	Plectin 29.	might get lost (downstream of altered splice site)
4411	4411	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4446	4483	REPEAT	Plectin 30.	might get lost (downstream of altered splice site)
4467	4467	CONFLICT	F -> L (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
4484	4521	REPEAT	Plectin 31.	might get lost (downstream of altered splice site)
4522	4559	REPEAT	Plectin 32.	might get lost (downstream of altered splice site)
4539	4539	MOD_RES	Phosphothreonine; by CDK1 (By similarity).	might get lost (downstream of altered splice site)
4560	4597	REPEAT	Plectin 33.	might get lost (downstream of altered splice site)
4611	4611	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4613	4613	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4615	4615	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4618	4618	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4620	4620	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4622	4622	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4623	4623	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4625	4640	REGION	4 X 4 AA tandem repeats of G-S-R-X.	might get lost (downstream of altered splice site)
4626	4626	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4628	4628	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4642	4642	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4658	4658	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4675	4675	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

13656 / 13656

position (AA) of stopcodon in wt / mu AA sequence

4552 / 4552

position of stopcodon in wt / mu cDNA

13665 / 13665

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

10 / 10

chromosome

strand

-1

last intron/exon boundary

7447

theoretical NMD boundary in CDS

7387

length of CDS

13656

coding sequence (CDS) position

7972

cDNA position
(for ins/del: last normal base / first normal base)

7981

gDNA position
(for ins/del: last normal base / first normal base)

54874

chromosomal position
(for ins/del: last normal base / first normal base)

144996029

original gDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGTCAGCTCAGAGGCTGCAGGAG

altered gDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGCCAGCTCAGAGGCTGCAGGAG

original cDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGTCAGCTCAGAGGCTGCAGGAG

altered cDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGCCAGCTCAGAGGCTGCAGGAG

wildtype AA sequence

MSGAGGAFAS PREVLLERPC WLDGGCEPAR RGYLYQQLCC VDERDRVQKK TFTKWVNKHL
IKAQRHISDL YEDLRDGHNL ISLLEVLSGD SLPREKGRMR FHKLQNVQIA LDYLRHRQVK
LVNIRNDDIA DGNPKLTLGL IWTIILHFQI SDIQVSGQSE DMTAKEKLLL WSQRMVEGYQ
GLRCDNFTSS WRDGRLFNAI IHRHKPLLID MNKVYRQTNL ENLDQAFSVA ERDLGVTRLL
DPEDVDVPQP DEKSIITYVS SLYDAMPRVP DVQDGVRANE LQLRWQEYRE LVLLLLQWMR
HHTAAFEERR FPSSFEEIEI LWSQFLKFKE MELPAKEADK NRSKGIYQSL EGAVQAGQLK
VPPGYHPLDV EKEWGKLHVA ILEREKQLRS EFERLECLQR IVTKLQMEAG LCEEQLNQAD
ALLQSDVRLL AAGKVPQRAG EVERDLDKAD SMIRLLFNDV QTLKDGRHPQ GEQMYRRVYR
LHERLVAIRT EYNLRLKAGV AAPATQVAQV TLQSVQRRPE LEDSTLRYLQ DLLAWVEENQ
HRVDGAEWGV DLPSVEAQLG SHRGLHQSIE EFRAKIERAR SDEGQLSPAT RGAYRDCLGR
LDLQYAKLLN SSKARLRSLE SLHSFVAAAT KELMWLNEKE EEEVGFDWSD RNTNMTAKKE
SYSALMRELE LKEKKIKELQ NAGDRLLRED HPARPTVESF QAALQTQWSW MLQLCCCIEA
HLKENAAYFQ FFSDVREAEG QLQKLQEALR RKYSCDRSAT VTRLEDLLQD AQDEKEQLNE
YKGHLSGLAK RAKAVVQLKP RHPAHPMRGR LPLLAVCDYK QVEVTVHKGD ECQLVGPAQP
SHWKVLSSSG SEAAVPSVCF LVPPPNQEAQ EAVTRLEAQH QALVTLWHQL HVDMKSLLAW
QSLRRDVQLI RSWSLATFRT LKPEEQRQAL HSLELHYQAF LRDSQDAGGF GPEDRLMAER
EYGSCSHHYQ QLLQSLEQGA QEESRCQRCI SELKDIRLQL EACETRTVHR LRLPLDKEPA
RECAQRIAEQ QKAQAEVEGL GKGVARLSAE AEKVLALPEP SPAAPTLRSE LELTLGKLEQ
VRSLSAIYLE KLKTISLVIR GTQGAEEVLR AHEEQLKEAQ AVPATLPELE ATKASLKKLR
AQAEAQQPTF DALRDELRGA QEVGERLQQR HGERDVEVER WRERVAQLLE RWQAVLAQTD
VRQRELEQLG RQLRYYRESA DPLGAWLQDA RRRQEQIQAM PLADSQAVRE QLRQEQALLE
EIERHGEKVE ECQRFAKQYI NAIKDYELQL VTYKAQLEPV ASPAKKPKVQ SGSESVIQEY
VDLRTHYSEL TTLTSQYIKF ISETLRRMEE EERLAEQQRA EERERLAEVE AALEKQRQLA
EAHAQAKAQA EREAKELQQR MQEEVVRREE AAVDAQQQKR SIQEELQQLR QSSEAEIQAK
ARQAEAAERS RLRIEEEIRV VRLQLEATER QRGGAEGELQ ALRARAEEAE AQKRQAQEEA
ERLRRQVQDE SQRKRQAEVE LASRVKAEAE AAREKQRALQ ALEELRLQAE EAERRLRQAE
VERARQVQVA LETAQRSAEA ELQSKRASFA EKTAQLERSL QEEHVAVAQL REEAERRAQQ
QAEAERAREE AERELERWQL KANEALRLRL QAEEVAQQKS LAQAEAEKQK EEAEREARRR
GKAEEQAVRQ RELAEQELEK QRQLAEGTAQ QRLAAEQELI RLRAETEQGE QQRQLLEEEL
ARLQREAAAA TQKRQELEAE LAKVRAEMEV LLASKARAEE ESRSTSEKSK QRLEAEAGRF
RELAEEAARL RALAEEAKRQ RQLAEEDAAR QRAEAERVLA EKLAAIGEAT RLKTEAEIAL
KEKEAENERL RRLAEDEAFQ RRRLEEQAAQ HKADIEERLA QLRKASDSEL ERQKGLVEDT
LRQRRQVEEE ILALKASFEK AAAGKAELEL ELGRIRSNAE DTLRSKEQAE LEAARQRQLA
AEEERRRREA EERVQKSLAA EEEAARQRKA ALEEVERLKA KVEEARRLRE RAEQESARQL
QLAQEAAQKR LQAEEKAHAF AVQQKEQELQ QTLQQEQSVL DQLRGEAEAA RRAAEEAEEA
RVQAEREAAQ SRRQVEEAER LKQSAEEQAQ ARAQAQAAAE KLRKEAEQEA ARRAQAEQAA
LRQKQAADAE MEKHKKFAEQ TLRQKAQVEQ ELTTLRLQLE ETDHQKNLLD EELQRLKAEA
TEAARQRSQV EEELFSVRVQ MEELSKLKAR IEAENRALIL RDKDNTQRFL QEEAEKMKQV
AEEAARLSVA AQEAARLRQL AEEDLAQQRA LAEKMLKEKM QAVQEATRLK AEAELLQQQK
ELAQEQARRL QEDKEQMAQQ LAEETQGFQR TLEAERQRQL EMSAEAERLK LRVAEMSRAQ
ARAEEDAQRF RKQAEEIGEK LHRTELATQE KVTLVQTLEI QRQQSDHDAE RLREAIAELE
REKEKLQQEA KLLQLKSEEM QTVQQEQLLQ ETQALQQSFL SEKDSLLQRE RFIEQEKAKL
EQLFQDEVAK AQQLREEQQR QQQQMEQERQ RLVASMEEAR RRQHEAEEGV RRKQEELQQL
EQQRRQQEEL LAEENQRLRE QLQLLEEQHR AALAHSEEVT ASQVAATKTL PNGRDALDGP
AAEAEPEHSF DGLRRKVSAQ RLQEAGILSA EELQRLAQGH TTVDELARRE DVRHYLQGRS
SIAGLLLKAT NEKLSVYAAL QRQLLSPGTA LILLEAQAAS GFLLDPVRNR RLTVNEAVKE
GVVGPELHHK LLSAERAVTG YKDPYTGQQI SLFQAMQKGL IVREHGIRLL EAQIATGGVI
DPVHSHRVPV DVAYRRGYFD EEMNRVLADP SDDTKGFFDP NTHENLTYLQ LLERCVEDPE
TGLCLLPLTD KAAKGGELVY TDSEARDVFE KATVSAPFGK FQGKTVTIWE IINSEYFTAE
QRRDLLRQFR TGRITVEKII KIIITVVEEQ EQKGRLCFEG LRSLVPAAEL LESRVIDREL
YQQLQRGERS VRDVAEVDTV RRALRGANVI AGVWLEEAGQ KLSIYNALKK DLLPSDMAVA
LLEAQAGTGH IIDPATSARL TVDEAVRAGL VGPEFHEKLL SAEKAVTGYR DPYTGQSVSL
FQALKKGLIP REQGLRLLDA QLSTGGIVDP SKSHRVPLDV ACARGCLDEE TSRALSAPRA
DAKAYSDPST GEPATYGELQ QRCRPDQLTG LSLLPLSEKA ARARQEELYS ELQARETFEK
TPVEVPVGGF KGRTVTVWEL ISSEYFTAEQ RQELLRQFRT GKVTVEKVIK ILITIVEEVE
TLRQERLSFS GLRAPVPASE LLASGVLSRA QFEQLKDGKT TVKDLSELGS VRTLLQGSGC
LAGIYLEDTK EKVSIYEAMR RGLLRATTAA LLLEAQAATG FLVDPVRNQR LYVHEAVKAG
VVGPELHEQL LSAEKAVTGY RDPYSGSTIS LFQAMQKGLV LRQHGIRLLE AQIATGGIID
PVHSHRVPVD VAYQRGYFSE EMNRVLADPS DDTKGFFDPN THENLTYRQL LERCVEDPET
GLRLLPLKGA EKAEVVETTQ VYTEEETRRA FEETQIDIPG GGSHGGSTMS LWEVMQSDLI
PEEQRAQLMA DFQAGRVTKE RMIIIIIEII EKTEIIRQQG LASYDYVRRR LTAEDLFEAR
IISLETYNLL REGTRSLREA LEAESAWCYL YGTGSVAGVY LPGSRQTLSI YQALKKGLLS
AEVARLLLEA QAATGFLLDP VKGERLTVDE AVRKGLVGPE LHDRLLSAER AVTGYRDPYT
EQTISLFQAM KKELIPTEEA LRLLDAQLAT GGIVDPRLGF HLPLEVAYQR GYLNKDTHDQ
LSEPSEVRSY VDPSTDERLS YTQLLRRCRR DDGTGQLLLP LSDARKLTFR GLRKQITMEE
LVRSQVMDEA TALQLREGLT SIEEVTKNLQ KFLEGTSCIA GVFVDATKER LSVYQAMKKG
IIRPGTAFEL LEAQAATGYV IDPIKGLKLT VEEAVRMGIV GPEFKDKLLS AERAVTGYKD
PYSGKLISLF QAMKKGLILK DHGIRLLEAQ IATGGIIDPE ESHRLPVEVA YKRGLFDEEM
NEILTDPSDD TKGFFDPNTE ENLTYLQLME RCITDPQTGL CLLPLKEKKR ERKTSSKSSV
RKRRVVIVDP ETGKEMSVYE AYRKGLIDHQ TYLELSEQEC EWEEITISSS DGVVKSMIID
RRSGRQYDID DAIAKNLIDR SALDQYRAGT LSITEFADML SGNAGGFRSR SSSVGSSSSY
PISPAVSRTQ LASWSDPTEE TGPVAGILDT ETLEKVSITE AMHRNLVDNI TGQRLLEAQA
CTGGIIDPST GERFPVTDAV NKGLVDKIMV DRINLAQKAF CGFEDPRTKT KMSAAQALKK
GWLYYEAGQR FLEVQYLTGG LIEPDTPGRV PLDEALQRGT VDARTAQKLR DVGAYSKYLT
CPKTKLKISY KDALDRSMVE EGTGLRLLEA AAQSTKGYYS PYSVSGSGST AGSRTGSRTG
SRAGSRRGSF DATGSGFSMT FSSSSYSSSG YGRRYASGSS ASLGGPESAV A*

mutated AA sequence

MSGAGGAFAS PREVLLERPC WLDGGCEPAR RGYLYQQLCC VDERDRVQKK TFTKWVNKHL
IKAQRHISDL YEDLRDGHNL ISLLEVLSGD SLPREKGRMR FHKLQNVQIA LDYLRHRQVK
LVNIRNDDIA DGNPKLTLGL IWTIILHFQI SDIQVSGQSE DMTAKEKLLL WSQRMVEGYQ
GLRCDNFTSS WRDGRLFNAI IHRHKPLLID MNKVYRQTNL ENLDQAFSVA ERDLGVTRLL
DPEDVDVPQP DEKSIITYVS SLYDAMPRVP DVQDGVRANE LQLRWQEYRE LVLLLLQWMR
HHTAAFEERR FPSSFEEIEI LWSQFLKFKE MELPAKEADK NRSKGIYQSL EGAVQAGQLK
VPPGYHPLDV EKEWGKLHVA ILEREKQLRS EFERLECLQR IVTKLQMEAG LCEEQLNQAD
ALLQSDVRLL AAGKVPQRAG EVERDLDKAD SMIRLLFNDV QTLKDGRHPQ GEQMYRRVYR
LHERLVAIRT EYNLRLKAGV AAPATQVAQV TLQSVQRRPE LEDSTLRYLQ DLLAWVEENQ
HRVDGAEWGV DLPSVEAQLG SHRGLHQSIE EFRAKIERAR SDEGQLSPAT RGAYRDCLGR
LDLQYAKLLN SSKARLRSLE SLHSFVAAAT KELMWLNEKE EEEVGFDWSD RNTNMTAKKE
SYSALMRELE LKEKKIKELQ NAGDRLLRED HPARPTVESF QAALQTQWSW MLQLCCCIEA
HLKENAAYFQ FFSDVREAEG QLQKLQEALR RKYSCDRSAT VTRLEDLLQD AQDEKEQLNE
YKGHLSGLAK RAKAVVQLKP RHPAHPMRGR LPLLAVCDYK QVEVTVHKGD ECQLVGPAQP
SHWKVLSSSG SEAAVPSVCF LVPPPNQEAQ EAVTRLEAQH QALVTLWHQL HVDMKSLLAW
QSLRRDVQLI RSWSLATFRT LKPEEQRQAL HSLELHYQAF LRDSQDAGGF GPEDRLMAER
EYGSCSHHYQ QLLQSLEQGA QEESRCQRCI SELKDIRLQL EACETRTVHR LRLPLDKEPA
RECAQRIAEQ QKAQAEVEGL GKGVARLSAE AEKVLALPEP SPAAPTLRSE LELTLGKLEQ
VRSLSAIYLE KLKTISLVIR GTQGAEEVLR AHEEQLKEAQ AVPATLPELE ATKASLKKLR
AQAEAQQPTF DALRDELRGA QEVGERLQQR HGERDVEVER WRERVAQLLE RWQAVLAQTD
VRQRELEQLG RQLRYYRESA DPLGAWLQDA RRRQEQIQAM PLADSQAVRE QLRQEQALLE
EIERHGEKVE ECQRFAKQYI NAIKDYELQL VTYKAQLEPV ASPAKKPKVQ SGSESVIQEY
VDLRTHYSEL TTLTSQYIKF ISETLRRMEE EERLAEQQRA EERERLAEVE AALEKQRQLA
EAHAQAKAQA EREAKELQQR MQEEVVRREE AAVDAQQQKR SIQEELQQLR QSSEAEIQAK
ARQAEAAERS RLRIEEEIRV VRLQLEATER QRGGAEGELQ ALRARAEEAE AQKRQAQEEA
ERLRRQVQDE SQRKRQAEVE LASRVKAEAE AAREKQRALQ ALEELRLQAE EAERRLRQAE
VERARQVQVA LETAQRSAEA ELQSKRASFA EKTAQLERSL QEEHVAVAQL REEAERRAQQ
QAEAERAREE AERELERWQL KANEALRLRL QAEEVAQQKS LAQAEAEKQK EEAEREARRR
GKAEEQAVRQ RELAEQELEK QRQLAEGTAQ QRLAAEQELI RLRAETEQGE QQRQLLEEEL
ARLQREAAAA TQKRQELEAE LAKVRAEMEV LLASKARAEE ESRSTSEKSK QRLEAEAGRF
RELAEEAARL RALAEEAKRQ RQLAEEDAAR QRAEAERVLA EKLAAIGEAT RLKTEAEIAL
KEKEAENERL RRLAEDEAFQ RRRLEEQAAQ HKADIEERLA QLRKASDSEL ERQKGLVEDT
LRQRRQVEEE ILALKASFEK AAAGKAELEL ELGRIRSNAE DTLRSKEQAE LEAARQRQLA
AEEERRRREA EERVQKSLAA EEEAARQRKA ALEEVERLKA KVEEARRLRE RAEQESARQL
QLAQEAAQKR LQAEEKAHAF AVQQKEQELQ QTLQQEQSVL DQLRGEAEAA RRAAEEAEEA
RVQAEREAAQ SRRQVEEAER LKQSAEEQAQ ARAQAQAAAE KLRKEAEQEA ARRAQAEQAA
LRQKQAADAE MEKHKKFAEQ TLRQKAQVEQ ELTTLRLQLE ETDHQKNLLD EELQRLKAEA
TEAARQRSQV EEELFSVRVQ MEELSKLKAR IEAENRALIL RDKDNTQRFL QEEAEKMKQV
AEEAARLSVA AQEAARLRQL AEEDLAQQRA LAEKMLKEKM QAVQEATRLK AEAELLQQQK
ELAQEQARRL QEDKEQMAQQ LAEETQGFQR TLEAERQRQL EMSAEAERLK LRVAEMSRAQ
ARAEEDAQRF RKQAEEIGEK LHRTELATQE KVTLVQTLEI QRQQSDHDAE RLREAIAELE
REKEKLQQEA KLLQLKSEEM QTVQQEQLLQ ETQALQQSFL SEKDSLLQRE RFIEQEKAKL
EQLFQDEVAK AQQLREEQQR QQQQMEQERQ RLVASMEEAR RRQHEAEEGV RRKQEELQQL
EQQRRQQEEL LAEENQRLRE QLQLLEEQHR AALAHSEEVT ASQVAATKTL PNGRDALDGP
AAEAEPEHSF DGLRRKVPAQ RLQEAGILSA EELQRLAQGH TTVDELARRE DVRHYLQGRS
SIAGLLLKAT NEKLSVYAAL QRQLLSPGTA LILLEAQAAS GFLLDPVRNR RLTVNEAVKE
GVVGPELHHK LLSAERAVTG YKDPYTGQQI SLFQAMQKGL IVREHGIRLL EAQIATGGVI
DPVHSHRVPV DVAYRRGYFD EEMNRVLADP SDDTKGFFDP NTHENLTYLQ LLERCVEDPE
TGLCLLPLTD KAAKGGELVY TDSEARDVFE KATVSAPFGK FQGKTVTIWE IINSEYFTAE
QRRDLLRQFR TGRITVEKII KIIITVVEEQ EQKGRLCFEG LRSLVPAAEL LESRVIDREL
YQQLQRGERS VRDVAEVDTV RRALRGANVI AGVWLEEAGQ KLSIYNALKK DLLPSDMAVA
LLEAQAGTGH IIDPATSARL TVDEAVRAGL VGPEFHEKLL SAEKAVTGYR DPYTGQSVSL
FQALKKGLIP REQGLRLLDA QLSTGGIVDP SKSHRVPLDV ACARGCLDEE TSRALSAPRA
DAKAYSDPST GEPATYGELQ QRCRPDQLTG LSLLPLSEKA ARARQEELYS ELQARETFEK
TPVEVPVGGF KGRTVTVWEL ISSEYFTAEQ RQELLRQFRT GKVTVEKVIK ILITIVEEVE
TLRQERLSFS GLRAPVPASE LLASGVLSRA QFEQLKDGKT TVKDLSELGS VRTLLQGSGC
LAGIYLEDTK EKVSIYEAMR RGLLRATTAA LLLEAQAATG FLVDPVRNQR LYVHEAVKAG
VVGPELHEQL LSAEKAVTGY RDPYSGSTIS LFQAMQKGLV LRQHGIRLLE AQIATGGIID
PVHSHRVPVD VAYQRGYFSE EMNRVLADPS DDTKGFFDPN THENLTYRQL LERCVEDPET
GLRLLPLKGA EKAEVVETTQ VYTEEETRRA FEETQIDIPG GGSHGGSTMS LWEVMQSDLI
PEEQRAQLMA DFQAGRVTKE RMIIIIIEII EKTEIIRQQG LASYDYVRRR LTAEDLFEAR
IISLETYNLL REGTRSLREA LEAESAWCYL YGTGSVAGVY LPGSRQTLSI YQALKKGLLS
AEVARLLLEA QAATGFLLDP VKGERLTVDE AVRKGLVGPE LHDRLLSAER AVTGYRDPYT
EQTISLFQAM KKELIPTEEA LRLLDAQLAT GGIVDPRLGF HLPLEVAYQR GYLNKDTHDQ
LSEPSEVRSY VDPSTDERLS YTQLLRRCRR DDGTGQLLLP LSDARKLTFR GLRKQITMEE
LVRSQVMDEA TALQLREGLT SIEEVTKNLQ KFLEGTSCIA GVFVDATKER LSVYQAMKKG
IIRPGTAFEL LEAQAATGYV IDPIKGLKLT VEEAVRMGIV GPEFKDKLLS AERAVTGYKD
PYSGKLISLF QAMKKGLILK DHGIRLLEAQ IATGGIIDPE ESHRLPVEVA YKRGLFDEEM
NEILTDPSDD TKGFFDPNTE ENLTYLQLME RCITDPQTGL CLLPLKEKKR ERKTSSKSSV
RKRRVVIVDP ETGKEMSVYE AYRKGLIDHQ TYLELSEQEC EWEEITISSS DGVVKSMIID
RRSGRQYDID DAIAKNLIDR SALDQYRAGT LSITEFADML SGNAGGFRSR SSSVGSSSSY
PISPAVSRTQ LASWSDPTEE TGPVAGILDT ETLEKVSITE AMHRNLVDNI TGQRLLEAQA
CTGGIIDPST GERFPVTDAV NKGLVDKIMV DRINLAQKAF CGFEDPRTKT KMSAAQALKK
GWLYYEAGQR FLEVQYLTGG LIEPDTPGRV PLDEALQRGT VDARTAQKLR DVGAYSKYLT
CPKTKLKISY KDALDRSMVE EGTGLRLLEA AAQSTKGYYS PYSVSGSGST AGSRTGSRTG
SRAGSRRGSF DATGSGFSMT FSSSSYSSSG YGRRYASGSS ASLGGPESAV A*

speed

1.28 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999727159578415 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:144996029A>GN/A show variant in all transcripts IGV

HGNC symbol

PLEC

Ensembl transcript ID

ENST00000354589

Genbank transcript ID

NM_201382

UniProt peptide

Q15149

alteration type

single base exchange

alteration region

CDS

DNA changes

c.7960T>C
cDNA.8028T>C
g.54874T>C

AA changes

S2654P Score: 74 explain score(s)

position(s) of altered AA
if AA alteration in CDS

2654

frameshift

known variant

Reference ID: rs7833924

database	homozygous (G/G)	heterozygous	allele carriers
1000G	736	865	1601
ExAC	10289	12189	22478

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.03	0.983
	0.621	0.98
(flanking)	0.034	0.978

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	54876	wt: 0.7442 / mu: 0.7665 (marginal change - not scored)	wt: GTGTCAGCTCAGAGG mu: GTGCCAGCTCAGAGG	GTCA\|gctc
Donor marginally increased	54865	wt: 0.9267 / mu: 0.9722 (marginal change - not scored)	wt: TGCGGCGGAAGGTGT mu: TGCGGCGGAAGGTGC	CGGC\|ggaa
Donor gained	54878	0.51	mu: GCCAGCTCAGAGGCT	CAGC\|tcag

distance from splice site

535

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

2654

mutated

not conserved

2654

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000000388

2791

Fcatus

not conserved

ENSFCAG00000001046

3113

Mmusculus

not conserved

ENSMUSG00000022565

2799

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000003715

2794

Drerio

not conserved

ENSDARG00000021987

2669

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1469	2756	COILED	Potential.	lost
1471	2755	REGION	Central fibrous rod domain.	lost
2755	2755	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2756	4684	REGION	Globular 2.	might get lost (downstream of altered splice site)
2814	2814	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2826	2863	REPEAT	Plectin 1.	might get lost (downstream of altered splice site)
2841	2841	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2864	2901	REPEAT	Plectin 2.	might get lost (downstream of altered splice site)
2902	2939	REPEAT	Plectin 3.	might get lost (downstream of altered splice site)
2940	2977	REPEAT	Plectin 4.	might get lost (downstream of altered splice site)
2981	3015	REPEAT	Plectin 5.	might get lost (downstream of altered splice site)
3027	3027	CONFLICT	K -> E (in Ref. 2; AAB05427/AAB05428).	might get lost (downstream of altered splice site)
3033	3033	MOD_RES	Phosphotyrosine (By similarity).	might get lost (downstream of altered splice site)
3091	3091	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
3116	3153	REPEAT	Plectin 6.	might get lost (downstream of altered splice site)
3154	3191	REPEAT	Plectin 7.	might get lost (downstream of altered splice site)
3192	3229	REPEAT	Plectin 8.	might get lost (downstream of altered splice site)
3230	3267	REPEAT	Plectin 9.	might get lost (downstream of altered splice site)
3268	3305	REPEAT	Plectin 10.	might get lost (downstream of altered splice site)
3306	3343	REPEAT	Plectin 11.	might get lost (downstream of altered splice site)
3310	3310	CONFLICT	A -> E (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3361	3361	CONFLICT	L -> F (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3362	3362	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
3408	3408	CONFLICT	L -> F (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3420	3420	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
3447	3447	CONFLICT	A -> S (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3485	3522	REPEAT	Plectin 12.	might get lost (downstream of altered splice site)
3523	3560	REPEAT	Plectin 13.	might get lost (downstream of altered splice site)
3531	3531	CONFLICT	A -> G (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3561	3598	REPEAT	Plectin 14.	might get lost (downstream of altered splice site)
3580	3580	CONFLICT	S -> R (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3589	3589	CONFLICT	Q -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3596	3596	CONFLICT	Q -> E (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3599	3636	REPEAT	Plectin 15.	might get lost (downstream of altered splice site)
3616	3616	CONFLICT	H -> N (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3640	3674	REPEAT	Plectin 16.	might get lost (downstream of altered splice site)
3686	3686	CONFLICT	A -> V (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3786	3786	CONFLICT	A -> G (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3808	3808	CONFLICT	R -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3816	3816	CONFLICT	A -> G (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3820	3857	REPEAT	Plectin 17.	might get lost (downstream of altered splice site)
3821	3821	CONFLICT	C -> F (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3858	3895	REPEAT	Plectin 18.	might get lost (downstream of altered splice site)
3896	3933	REPEAT	Plectin 19.	might get lost (downstream of altered splice site)
3915	3915	CONFLICT	Q -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3934	3971	REPEAT	Plectin 20.	might get lost (downstream of altered splice site)
3975	4008	REPEAT	Plectin 21.	might get lost (downstream of altered splice site)
3999	3999	CONFLICT	R -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
4007	4007	CONFLICT	T -> S (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
4030	4030	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4063	4100	REPEAT	Plectin 22.	might get lost (downstream of altered splice site)
4101	4138	REPEAT	Plectin 23.	might get lost (downstream of altered splice site)
4139	4176	REPEAT	Plectin 24.	might get lost (downstream of altered splice site)
4155	4155	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4177	4214	REPEAT	Plectin 25.	might get lost (downstream of altered splice site)
4218	4252	REPEAT	Plectin 26.	might get lost (downstream of altered splice site)
4250	4300	REGION	Binding to intermediate filaments (By similarity).	might get lost (downstream of altered splice site)
4265	4305	REPEAT	Plectin 27.	might get lost (downstream of altered splice site)
4319	4356	REPEAT	Plectin 28.	might get lost (downstream of altered splice site)
4382	4382	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4384	4384	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4385	4385	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4386	4386	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4389	4389	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4390	4390	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4391	4391	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
4392	4392	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4393	4393	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4396	4396	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4400	4400	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4402	4402	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4408	4445	REPEAT	Plectin 29.	might get lost (downstream of altered splice site)
4411	4411	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4446	4483	REPEAT	Plectin 30.	might get lost (downstream of altered splice site)
4467	4467	CONFLICT	F -> L (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
4484	4521	REPEAT	Plectin 31.	might get lost (downstream of altered splice site)
4522	4559	REPEAT	Plectin 32.	might get lost (downstream of altered splice site)
4539	4539	MOD_RES	Phosphothreonine; by CDK1 (By similarity).	might get lost (downstream of altered splice site)
4560	4597	REPEAT	Plectin 33.	might get lost (downstream of altered splice site)
4611	4611	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4613	4613	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4615	4615	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4618	4618	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4620	4620	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4622	4622	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4623	4623	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4625	4640	REGION	4 X 4 AA tandem repeats of G-S-R-X.	might get lost (downstream of altered splice site)
4626	4626	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4628	4628	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4642	4642	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4658	4658	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4675	4675	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

13644 / 13644

position (AA) of stopcodon in wt / mu AA sequence

4548 / 4548

position of stopcodon in wt / mu cDNA

13712 / 13712

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

69 / 69

chromosome

strand

-1

last intron/exon boundary

7494

theoretical NMD boundary in CDS

7375

length of CDS

13644

coding sequence (CDS) position

7960

cDNA position
(for ins/del: last normal base / first normal base)

8028

gDNA position
(for ins/del: last normal base / first normal base)

54874

chromosomal position
(for ins/del: last normal base / first normal base)

144996029

original gDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGTCAGCTCAGAGGCTGCAGGAG

altered gDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGCCAGCTCAGAGGCTGCAGGAG

original cDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGTCAGCTCAGAGGCTGCAGGAG

altered cDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGCCAGCTCAGAGGCTGCAGGAG

wildtype AA sequence

MEPSGSLFPS LVVVGHVVTL AAVWHWRRGR RWAQDEQDER DRVQKKTFTK WVNKHLIKAQ
RHISDLYEDL RDGHNLISLL EVLSGDSLPR EKGRMRFHKL QNVQIALDYL RHRQVKLVNI
RNDDIADGNP KLTLGLIWTI ILHFQISDIQ VSGQSEDMTA KEKLLLWSQR MVEGYQGLRC
DNFTSSWRDG RLFNAIIHRH KPLLIDMNKV YRQTNLENLD QAFSVAERDL GVTRLLDPED
VDVPQPDEKS IITYVSSLYD AMPRVPDVQD GVRANELQLR WQEYRELVLL LLQWMRHHTA
AFEERRFPSS FEEIEILWSQ FLKFKEMELP AKEADKNRSK GIYQSLEGAV QAGQLKVPPG
YHPLDVEKEW GKLHVAILER EKQLRSEFER LECLQRIVTK LQMEAGLCEE QLNQADALLQ
SDVRLLAAGK VPQRAGEVER DLDKADSMIR LLFNDVQTLK DGRHPQGEQM YRRVYRLHER
LVAIRTEYNL RLKAGVAAPA TQVAQVTLQS VQRRPELEDS TLRYLQDLLA WVEENQHRVD
GAEWGVDLPS VEAQLGSHRG LHQSIEEFRA KIERARSDEG QLSPATRGAY RDCLGRLDLQ
YAKLLNSSKA RLRSLESLHS FVAAATKELM WLNEKEEEEV GFDWSDRNTN MTAKKESYSA
LMRELELKEK KIKELQNAGD RLLREDHPAR PTVESFQAAL QTQWSWMLQL CCCIEAHLKE
NAAYFQFFSD VREAEGQLQK LQEALRRKYS CDRSATVTRL EDLLQDAQDE KEQLNEYKGH
LSGLAKRAKA VVQLKPRHPA HPMRGRLPLL AVCDYKQVEV TVHKGDECQL VGPAQPSHWK
VLSSSGSEAA VPSVCFLVPP PNQEAQEAVT RLEAQHQALV TLWHQLHVDM KSLLAWQSLR
RDVQLIRSWS LATFRTLKPE EQRQALHSLE LHYQAFLRDS QDAGGFGPED RLMAEREYGS
CSHHYQQLLQ SLEQGAQEES RCQRCISELK DIRLQLEACE TRTVHRLRLP LDKEPARECA
QRIAEQQKAQ AEVEGLGKGV ARLSAEAEKV LALPEPSPAA PTLRSELELT LGKLEQVRSL
SAIYLEKLKT ISLVIRGTQG AEEVLRAHEE QLKEAQAVPA TLPELEATKA SLKKLRAQAE
AQQPTFDALR DELRGAQEVG ERLQQRHGER DVEVERWRER VAQLLERWQA VLAQTDVRQR
ELEQLGRQLR YYRESADPLG AWLQDARRRQ EQIQAMPLAD SQAVREQLRQ EQALLEEIER
HGEKVEECQR FAKQYINAIK DYELQLVTYK AQLEPVASPA KKPKVQSGSE SVIQEYVDLR
THYSELTTLT SQYIKFISET LRRMEEEERL AEQQRAEERE RLAEVEAALE KQRQLAEAHA
QAKAQAEREA KELQQRMQEE VVRREEAAVD AQQQKRSIQE ELQQLRQSSE AEIQAKARQA
EAAERSRLRI EEEIRVVRLQ LEATERQRGG AEGELQALRA RAEEAEAQKR QAQEEAERLR
RQVQDESQRK RQAEVELASR VKAEAEAARE KQRALQALEE LRLQAEEAER RLRQAEVERA
RQVQVALETA QRSAEAELQS KRASFAEKTA QLERSLQEEH VAVAQLREEA ERRAQQQAEA
ERAREEAERE LERWQLKANE ALRLRLQAEE VAQQKSLAQA EAEKQKEEAE REARRRGKAE
EQAVRQRELA EQELEKQRQL AEGTAQQRLA AEQELIRLRA ETEQGEQQRQ LLEEELARLQ
REAAAATQKR QELEAELAKV RAEMEVLLAS KARAEEESRS TSEKSKQRLE AEAGRFRELA
EEAARLRALA EEAKRQRQLA EEDAARQRAE AERVLAEKLA AIGEATRLKT EAEIALKEKE
AENERLRRLA EDEAFQRRRL EEQAAQHKAD IEERLAQLRK ASDSELERQK GLVEDTLRQR
RQVEEEILAL KASFEKAAAG KAELELELGR IRSNAEDTLR SKEQAELEAA RQRQLAAEEE
RRRREAEERV QKSLAAEEEA ARQRKAALEE VERLKAKVEE ARRLRERAEQ ESARQLQLAQ
EAAQKRLQAE EKAHAFAVQQ KEQELQQTLQ QEQSVLDQLR GEAEAARRAA EEAEEARVQA
EREAAQSRRQ VEEAERLKQS AEEQAQARAQ AQAAAEKLRK EAEQEAARRA QAEQAALRQK
QAADAEMEKH KKFAEQTLRQ KAQVEQELTT LRLQLEETDH QKNLLDEELQ RLKAEATEAA
RQRSQVEEEL FSVRVQMEEL SKLKARIEAE NRALILRDKD NTQRFLQEEA EKMKQVAEEA
ARLSVAAQEA ARLRQLAEED LAQQRALAEK MLKEKMQAVQ EATRLKAEAE LLQQQKELAQ
EQARRLQEDK EQMAQQLAEE TQGFQRTLEA ERQRQLEMSA EAERLKLRVA EMSRAQARAE
EDAQRFRKQA EEIGEKLHRT ELATQEKVTL VQTLEIQRQQ SDHDAERLRE AIAELEREKE
KLQQEAKLLQ LKSEEMQTVQ QEQLLQETQA LQQSFLSEKD SLLQRERFIE QEKAKLEQLF
QDEVAKAQQL REEQQRQQQQ MEQERQRLVA SMEEARRRQH EAEEGVRRKQ EELQQLEQQR
RQQEELLAEE NQRLREQLQL LEEQHRAALA HSEEVTASQV AATKTLPNGR DALDGPAAEA
EPEHSFDGLR RKVSAQRLQE AGILSAEELQ RLAQGHTTVD ELARREDVRH YLQGRSSIAG
LLLKATNEKL SVYAALQRQL LSPGTALILL EAQAASGFLL DPVRNRRLTV NEAVKEGVVG
PELHHKLLSA ERAVTGYKDP YTGQQISLFQ AMQKGLIVRE HGIRLLEAQI ATGGVIDPVH
SHRVPVDVAY RRGYFDEEMN RVLADPSDDT KGFFDPNTHE NLTYLQLLER CVEDPETGLC
LLPLTDKAAK GGELVYTDSE ARDVFEKATV SAPFGKFQGK TVTIWEIINS EYFTAEQRRD
LLRQFRTGRI TVEKIIKIII TVVEEQEQKG RLCFEGLRSL VPAAELLESR VIDRELYQQL
QRGERSVRDV AEVDTVRRAL RGANVIAGVW LEEAGQKLSI YNALKKDLLP SDMAVALLEA
QAGTGHIIDP ATSARLTVDE AVRAGLVGPE FHEKLLSAEK AVTGYRDPYT GQSVSLFQAL
KKGLIPREQG LRLLDAQLST GGIVDPSKSH RVPLDVACAR GCLDEETSRA LSAPRADAKA
YSDPSTGEPA TYGELQQRCR PDQLTGLSLL PLSEKAARAR QEELYSELQA RETFEKTPVE
VPVGGFKGRT VTVWELISSE YFTAEQRQEL LRQFRTGKVT VEKVIKILIT IVEEVETLRQ
ERLSFSGLRA PVPASELLAS GVLSRAQFEQ LKDGKTTVKD LSELGSVRTL LQGSGCLAGI
YLEDTKEKVS IYEAMRRGLL RATTAALLLE AQAATGFLVD PVRNQRLYVH EAVKAGVVGP
ELHEQLLSAE KAVTGYRDPY SGSTISLFQA MQKGLVLRQH GIRLLEAQIA TGGIIDPVHS
HRVPVDVAYQ RGYFSEEMNR VLADPSDDTK GFFDPNTHEN LTYRQLLERC VEDPETGLRL
LPLKGAEKAE VVETTQVYTE EETRRAFEET QIDIPGGGSH GGSTMSLWEV MQSDLIPEEQ
RAQLMADFQA GRVTKERMII IIIEIIEKTE IIRQQGLASY DYVRRRLTAE DLFEARIISL
ETYNLLREGT RSLREALEAE SAWCYLYGTG SVAGVYLPGS RQTLSIYQAL KKGLLSAEVA
RLLLEAQAAT GFLLDPVKGE RLTVDEAVRK GLVGPELHDR LLSAERAVTG YRDPYTEQTI
SLFQAMKKEL IPTEEALRLL DAQLATGGIV DPRLGFHLPL EVAYQRGYLN KDTHDQLSEP
SEVRSYVDPS TDERLSYTQL LRRCRRDDGT GQLLLPLSDA RKLTFRGLRK QITMEELVRS
QVMDEATALQ LREGLTSIEE VTKNLQKFLE GTSCIAGVFV DATKERLSVY QAMKKGIIRP
GTAFELLEAQ AATGYVIDPI KGLKLTVEEA VRMGIVGPEF KDKLLSAERA VTGYKDPYSG
KLISLFQAMK KGLILKDHGI RLLEAQIATG GIIDPEESHR LPVEVAYKRG LFDEEMNEIL
TDPSDDTKGF FDPNTEENLT YLQLMERCIT DPQTGLCLLP LKEKKRERKT SSKSSVRKRR
VVIVDPETGK EMSVYEAYRK GLIDHQTYLE LSEQECEWEE ITISSSDGVV KSMIIDRRSG
RQYDIDDAIA KNLIDRSALD QYRAGTLSIT EFADMLSGNA GGFRSRSSSV GSSSSYPISP
AVSRTQLASW SDPTEETGPV AGILDTETLE KVSITEAMHR NLVDNITGQR LLEAQACTGG
IIDPSTGERF PVTDAVNKGL VDKIMVDRIN LAQKAFCGFE DPRTKTKMSA AQALKKGWLY
YEAGQRFLEV QYLTGGLIEP DTPGRVPLDE ALQRGTVDAR TAQKLRDVGA YSKYLTCPKT
KLKISYKDAL DRSMVEEGTG LRLLEAAAQS TKGYYSPYSV SGSGSTAGSR TGSRTGSRAG
SRRGSFDATG SGFSMTFSSS SYSSSGYGRR YASGSSASLG GPESAVA*

mutated AA sequence

MEPSGSLFPS LVVVGHVVTL AAVWHWRRGR RWAQDEQDER DRVQKKTFTK WVNKHLIKAQ
RHISDLYEDL RDGHNLISLL EVLSGDSLPR EKGRMRFHKL QNVQIALDYL RHRQVKLVNI
RNDDIADGNP KLTLGLIWTI ILHFQISDIQ VSGQSEDMTA KEKLLLWSQR MVEGYQGLRC
DNFTSSWRDG RLFNAIIHRH KPLLIDMNKV YRQTNLENLD QAFSVAERDL GVTRLLDPED
VDVPQPDEKS IITYVSSLYD AMPRVPDVQD GVRANELQLR WQEYRELVLL LLQWMRHHTA
AFEERRFPSS FEEIEILWSQ FLKFKEMELP AKEADKNRSK GIYQSLEGAV QAGQLKVPPG
YHPLDVEKEW GKLHVAILER EKQLRSEFER LECLQRIVTK LQMEAGLCEE QLNQADALLQ
SDVRLLAAGK VPQRAGEVER DLDKADSMIR LLFNDVQTLK DGRHPQGEQM YRRVYRLHER
LVAIRTEYNL RLKAGVAAPA TQVAQVTLQS VQRRPELEDS TLRYLQDLLA WVEENQHRVD
GAEWGVDLPS VEAQLGSHRG LHQSIEEFRA KIERARSDEG QLSPATRGAY RDCLGRLDLQ
YAKLLNSSKA RLRSLESLHS FVAAATKELM WLNEKEEEEV GFDWSDRNTN MTAKKESYSA
LMRELELKEK KIKELQNAGD RLLREDHPAR PTVESFQAAL QTQWSWMLQL CCCIEAHLKE
NAAYFQFFSD VREAEGQLQK LQEALRRKYS CDRSATVTRL EDLLQDAQDE KEQLNEYKGH
LSGLAKRAKA VVQLKPRHPA HPMRGRLPLL AVCDYKQVEV TVHKGDECQL VGPAQPSHWK
VLSSSGSEAA VPSVCFLVPP PNQEAQEAVT RLEAQHQALV TLWHQLHVDM KSLLAWQSLR
RDVQLIRSWS LATFRTLKPE EQRQALHSLE LHYQAFLRDS QDAGGFGPED RLMAEREYGS
CSHHYQQLLQ SLEQGAQEES RCQRCISELK DIRLQLEACE TRTVHRLRLP LDKEPARECA
QRIAEQQKAQ AEVEGLGKGV ARLSAEAEKV LALPEPSPAA PTLRSELELT LGKLEQVRSL
SAIYLEKLKT ISLVIRGTQG AEEVLRAHEE QLKEAQAVPA TLPELEATKA SLKKLRAQAE
AQQPTFDALR DELRGAQEVG ERLQQRHGER DVEVERWRER VAQLLERWQA VLAQTDVRQR
ELEQLGRQLR YYRESADPLG AWLQDARRRQ EQIQAMPLAD SQAVREQLRQ EQALLEEIER
HGEKVEECQR FAKQYINAIK DYELQLVTYK AQLEPVASPA KKPKVQSGSE SVIQEYVDLR
THYSELTTLT SQYIKFISET LRRMEEEERL AEQQRAEERE RLAEVEAALE KQRQLAEAHA
QAKAQAEREA KELQQRMQEE VVRREEAAVD AQQQKRSIQE ELQQLRQSSE AEIQAKARQA
EAAERSRLRI EEEIRVVRLQ LEATERQRGG AEGELQALRA RAEEAEAQKR QAQEEAERLR
RQVQDESQRK RQAEVELASR VKAEAEAARE KQRALQALEE LRLQAEEAER RLRQAEVERA
RQVQVALETA QRSAEAELQS KRASFAEKTA QLERSLQEEH VAVAQLREEA ERRAQQQAEA
ERAREEAERE LERWQLKANE ALRLRLQAEE VAQQKSLAQA EAEKQKEEAE REARRRGKAE
EQAVRQRELA EQELEKQRQL AEGTAQQRLA AEQELIRLRA ETEQGEQQRQ LLEEELARLQ
REAAAATQKR QELEAELAKV RAEMEVLLAS KARAEEESRS TSEKSKQRLE AEAGRFRELA
EEAARLRALA EEAKRQRQLA EEDAARQRAE AERVLAEKLA AIGEATRLKT EAEIALKEKE
AENERLRRLA EDEAFQRRRL EEQAAQHKAD IEERLAQLRK ASDSELERQK GLVEDTLRQR
RQVEEEILAL KASFEKAAAG KAELELELGR IRSNAEDTLR SKEQAELEAA RQRQLAAEEE
RRRREAEERV QKSLAAEEEA ARQRKAALEE VERLKAKVEE ARRLRERAEQ ESARQLQLAQ
EAAQKRLQAE EKAHAFAVQQ KEQELQQTLQ QEQSVLDQLR GEAEAARRAA EEAEEARVQA
EREAAQSRRQ VEEAERLKQS AEEQAQARAQ AQAAAEKLRK EAEQEAARRA QAEQAALRQK
QAADAEMEKH KKFAEQTLRQ KAQVEQELTT LRLQLEETDH QKNLLDEELQ RLKAEATEAA
RQRSQVEEEL FSVRVQMEEL SKLKARIEAE NRALILRDKD NTQRFLQEEA EKMKQVAEEA
ARLSVAAQEA ARLRQLAEED LAQQRALAEK MLKEKMQAVQ EATRLKAEAE LLQQQKELAQ
EQARRLQEDK EQMAQQLAEE TQGFQRTLEA ERQRQLEMSA EAERLKLRVA EMSRAQARAE
EDAQRFRKQA EEIGEKLHRT ELATQEKVTL VQTLEIQRQQ SDHDAERLRE AIAELEREKE
KLQQEAKLLQ LKSEEMQTVQ QEQLLQETQA LQQSFLSEKD SLLQRERFIE QEKAKLEQLF
QDEVAKAQQL REEQQRQQQQ MEQERQRLVA SMEEARRRQH EAEEGVRRKQ EELQQLEQQR
RQQEELLAEE NQRLREQLQL LEEQHRAALA HSEEVTASQV AATKTLPNGR DALDGPAAEA
EPEHSFDGLR RKVPAQRLQE AGILSAEELQ RLAQGHTTVD ELARREDVRH YLQGRSSIAG
LLLKATNEKL SVYAALQRQL LSPGTALILL EAQAASGFLL DPVRNRRLTV NEAVKEGVVG
PELHHKLLSA ERAVTGYKDP YTGQQISLFQ AMQKGLIVRE HGIRLLEAQI ATGGVIDPVH
SHRVPVDVAY RRGYFDEEMN RVLADPSDDT KGFFDPNTHE NLTYLQLLER CVEDPETGLC
LLPLTDKAAK GGELVYTDSE ARDVFEKATV SAPFGKFQGK TVTIWEIINS EYFTAEQRRD
LLRQFRTGRI TVEKIIKIII TVVEEQEQKG RLCFEGLRSL VPAAELLESR VIDRELYQQL
QRGERSVRDV AEVDTVRRAL RGANVIAGVW LEEAGQKLSI YNALKKDLLP SDMAVALLEA
QAGTGHIIDP ATSARLTVDE AVRAGLVGPE FHEKLLSAEK AVTGYRDPYT GQSVSLFQAL
KKGLIPREQG LRLLDAQLST GGIVDPSKSH RVPLDVACAR GCLDEETSRA LSAPRADAKA
YSDPSTGEPA TYGELQQRCR PDQLTGLSLL PLSEKAARAR QEELYSELQA RETFEKTPVE
VPVGGFKGRT VTVWELISSE YFTAEQRQEL LRQFRTGKVT VEKVIKILIT IVEEVETLRQ
ERLSFSGLRA PVPASELLAS GVLSRAQFEQ LKDGKTTVKD LSELGSVRTL LQGSGCLAGI
YLEDTKEKVS IYEAMRRGLL RATTAALLLE AQAATGFLVD PVRNQRLYVH EAVKAGVVGP
ELHEQLLSAE KAVTGYRDPY SGSTISLFQA MQKGLVLRQH GIRLLEAQIA TGGIIDPVHS
HRVPVDVAYQ RGYFSEEMNR VLADPSDDTK GFFDPNTHEN LTYRQLLERC VEDPETGLRL
LPLKGAEKAE VVETTQVYTE EETRRAFEET QIDIPGGGSH GGSTMSLWEV MQSDLIPEEQ
RAQLMADFQA GRVTKERMII IIIEIIEKTE IIRQQGLASY DYVRRRLTAE DLFEARIISL
ETYNLLREGT RSLREALEAE SAWCYLYGTG SVAGVYLPGS RQTLSIYQAL KKGLLSAEVA
RLLLEAQAAT GFLLDPVKGE RLTVDEAVRK GLVGPELHDR LLSAERAVTG YRDPYTEQTI
SLFQAMKKEL IPTEEALRLL DAQLATGGIV DPRLGFHLPL EVAYQRGYLN KDTHDQLSEP
SEVRSYVDPS TDERLSYTQL LRRCRRDDGT GQLLLPLSDA RKLTFRGLRK QITMEELVRS
QVMDEATALQ LREGLTSIEE VTKNLQKFLE GTSCIAGVFV DATKERLSVY QAMKKGIIRP
GTAFELLEAQ AATGYVIDPI KGLKLTVEEA VRMGIVGPEF KDKLLSAERA VTGYKDPYSG
KLISLFQAMK KGLILKDHGI RLLEAQIATG GIIDPEESHR LPVEVAYKRG LFDEEMNEIL
TDPSDDTKGF FDPNTEENLT YLQLMERCIT DPQTGLCLLP LKEKKRERKT SSKSSVRKRR
VVIVDPETGK EMSVYEAYRK GLIDHQTYLE LSEQECEWEE ITISSSDGVV KSMIIDRRSG
RQYDIDDAIA KNLIDRSALD QYRAGTLSIT EFADMLSGNA GGFRSRSSSV GSSSSYPISP
AVSRTQLASW SDPTEETGPV AGILDTETLE KVSITEAMHR NLVDNITGQR LLEAQACTGG
IIDPSTGERF PVTDAVNKGL VDKIMVDRIN LAQKAFCGFE DPRTKTKMSA AQALKKGWLY
YEAGQRFLEV QYLTGGLIEP DTPGRVPLDE ALQRGTVDAR TAQKLRDVGA YSKYLTCPKT
KLKISYKDAL DRSMVEEGTG LRLLEAAAQS TKGYYSPYSV SGSGSTAGSR TGSRTGSRAG
SRRGSFDATG SGFSMTFSSS SYSSSGYGRR YASGSSASLG GPESAVA*

speed

1.05 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999727159578415 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:144996029A>GN/A show variant in all transcripts IGV

HGNC symbol

PLEC

Ensembl transcript ID

ENST00000398774

Genbank transcript ID

NM_201381

UniProt peptide

Q15149

alteration type

single base exchange

alteration region

CDS

DNA changes

c.7864T>C
cDNA.7938T>C
g.54874T>C

AA changes

S2622P Score: 74 explain score(s)

position(s) of altered AA
if AA alteration in CDS

2622

frameshift

known variant

Reference ID: rs7833924

database	homozygous (G/G)	heterozygous	allele carriers
1000G	736	865	1601
ExAC	10289	12189	22478

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.03	0.983
	0.621	0.98
(flanking)	0.034	0.978

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	54876	wt: 0.7442 / mu: 0.7665 (marginal change - not scored)	wt: GTGTCAGCTCAGAGG mu: GTGCCAGCTCAGAGG	GTCA\|gctc
Donor marginally increased	54865	wt: 0.9267 / mu: 0.9722 (marginal change - not scored)	wt: TGCGGCGGAAGGTGT mu: TGCGGCGGAAGGTGC	CGGC\|ggaa
Donor gained	54878	0.51	mu: GCCAGCTCAGAGGCT	CAGC\|tcag

distance from splice site

535

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

2622

mutated

not conserved

2622

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000000388

2791

Fcatus

not conserved

ENSFCAG00000001046

3113

Mmusculus

not conserved

ENSMUSG00000022565

2799

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000003715

2794

Drerio

not conserved

ENSDARG00000021987

2669

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1469	2756	COILED	Potential.	lost
1471	2755	REGION	Central fibrous rod domain.	lost
2755	2755	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2756	4684	REGION	Globular 2.	might get lost (downstream of altered splice site)
2814	2814	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2826	2863	REPEAT	Plectin 1.	might get lost (downstream of altered splice site)
2841	2841	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2864	2901	REPEAT	Plectin 2.	might get lost (downstream of altered splice site)
2902	2939	REPEAT	Plectin 3.	might get lost (downstream of altered splice site)
2940	2977	REPEAT	Plectin 4.	might get lost (downstream of altered splice site)
2981	3015	REPEAT	Plectin 5.	might get lost (downstream of altered splice site)
3027	3027	CONFLICT	K -> E (in Ref. 2; AAB05427/AAB05428).	might get lost (downstream of altered splice site)
3033	3033	MOD_RES	Phosphotyrosine (By similarity).	might get lost (downstream of altered splice site)
3091	3091	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
3116	3153	REPEAT	Plectin 6.	might get lost (downstream of altered splice site)
3154	3191	REPEAT	Plectin 7.	might get lost (downstream of altered splice site)
3192	3229	REPEAT	Plectin 8.	might get lost (downstream of altered splice site)
3230	3267	REPEAT	Plectin 9.	might get lost (downstream of altered splice site)
3268	3305	REPEAT	Plectin 10.	might get lost (downstream of altered splice site)
3306	3343	REPEAT	Plectin 11.	might get lost (downstream of altered splice site)
3310	3310	CONFLICT	A -> E (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3361	3361	CONFLICT	L -> F (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3362	3362	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
3408	3408	CONFLICT	L -> F (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3420	3420	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
3447	3447	CONFLICT	A -> S (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3485	3522	REPEAT	Plectin 12.	might get lost (downstream of altered splice site)
3523	3560	REPEAT	Plectin 13.	might get lost (downstream of altered splice site)
3531	3531	CONFLICT	A -> G (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3561	3598	REPEAT	Plectin 14.	might get lost (downstream of altered splice site)
3580	3580	CONFLICT	S -> R (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3589	3589	CONFLICT	Q -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3596	3596	CONFLICT	Q -> E (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3599	3636	REPEAT	Plectin 15.	might get lost (downstream of altered splice site)
3616	3616	CONFLICT	H -> N (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3640	3674	REPEAT	Plectin 16.	might get lost (downstream of altered splice site)
3686	3686	CONFLICT	A -> V (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3786	3786	CONFLICT	A -> G (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3808	3808	CONFLICT	R -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3816	3816	CONFLICT	A -> G (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3820	3857	REPEAT	Plectin 17.	might get lost (downstream of altered splice site)
3821	3821	CONFLICT	C -> F (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3858	3895	REPEAT	Plectin 18.	might get lost (downstream of altered splice site)
3896	3933	REPEAT	Plectin 19.	might get lost (downstream of altered splice site)
3915	3915	CONFLICT	Q -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3934	3971	REPEAT	Plectin 20.	might get lost (downstream of altered splice site)
3975	4008	REPEAT	Plectin 21.	might get lost (downstream of altered splice site)
3999	3999	CONFLICT	R -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
4007	4007	CONFLICT	T -> S (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
4030	4030	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4063	4100	REPEAT	Plectin 22.	might get lost (downstream of altered splice site)
4101	4138	REPEAT	Plectin 23.	might get lost (downstream of altered splice site)
4139	4176	REPEAT	Plectin 24.	might get lost (downstream of altered splice site)
4155	4155	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4177	4214	REPEAT	Plectin 25.	might get lost (downstream of altered splice site)
4218	4252	REPEAT	Plectin 26.	might get lost (downstream of altered splice site)
4250	4300	REGION	Binding to intermediate filaments (By similarity).	might get lost (downstream of altered splice site)
4265	4305	REPEAT	Plectin 27.	might get lost (downstream of altered splice site)
4319	4356	REPEAT	Plectin 28.	might get lost (downstream of altered splice site)
4382	4382	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4384	4384	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4385	4385	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4386	4386	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4389	4389	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4390	4390	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4391	4391	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
4392	4392	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4393	4393	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4396	4396	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4400	4400	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4402	4402	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4408	4445	REPEAT	Plectin 29.	might get lost (downstream of altered splice site)
4411	4411	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4446	4483	REPEAT	Plectin 30.	might get lost (downstream of altered splice site)
4467	4467	CONFLICT	F -> L (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
4484	4521	REPEAT	Plectin 31.	might get lost (downstream of altered splice site)
4522	4559	REPEAT	Plectin 32.	might get lost (downstream of altered splice site)
4539	4539	MOD_RES	Phosphothreonine; by CDK1 (By similarity).	might get lost (downstream of altered splice site)
4560	4597	REPEAT	Plectin 33.	might get lost (downstream of altered splice site)
4611	4611	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4613	4613	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4615	4615	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4618	4618	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4620	4620	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4622	4622	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4623	4623	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4625	4640	REGION	4 X 4 AA tandem repeats of G-S-R-X.	might get lost (downstream of altered splice site)
4626	4626	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4628	4628	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4642	4642	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4658	4658	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4675	4675	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

13548 / 13548

position (AA) of stopcodon in wt / mu AA sequence

4516 / 4516

position of stopcodon in wt / mu cDNA

13622 / 13622

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

75 / 75

chromosome

strand

-1

last intron/exon boundary

7404

theoretical NMD boundary in CDS

7279

length of CDS

13548

coding sequence (CDS) position

7864

cDNA position
(for ins/del: last normal base / first normal base)

7938

gDNA position
(for ins/del: last normal base / first normal base)

54874

chromosomal position
(for ins/del: last normal base / first normal base)

144996029

original gDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGTCAGCTCAGAGGCTGCAGGAG

altered gDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGCCAGCTCAGAGGCTGCAGGAG

original cDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGTCAGCTCAGAGGCTGCAGGAG

altered cDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGCCAGCTCAGAGGCTGCAGGAG

wildtype AA sequence

MKIVPDERDR VQKKTFTKWV NKHLIKAQRH ISDLYEDLRD GHNLISLLEV LSGDSLPREK
GRMRFHKLQN VQIALDYLRH RQVKLVNIRN DDIADGNPKL TLGLIWTIIL HFQISDIQVS
GQSEDMTAKE KLLLWSQRMV EGYQGLRCDN FTSSWRDGRL FNAIIHRHKP LLIDMNKVYR
QTNLENLDQA FSVAERDLGV TRLLDPEDVD VPQPDEKSII TYVSSLYDAM PRVPDVQDGV
RANELQLRWQ EYRELVLLLL QWMRHHTAAF EERRFPSSFE EIEILWSQFL KFKEMELPAK
EADKNRSKGI YQSLEGAVQA GQLKVPPGYH PLDVEKEWGK LHVAILEREK QLRSEFERLE
CLQRIVTKLQ MEAGLCEEQL NQADALLQSD VRLLAAGKVP QRAGEVERDL DKADSMIRLL
FNDVQTLKDG RHPQGEQMYR RVYRLHERLV AIRTEYNLRL KAGVAAPATQ VAQVTLQSVQ
RRPELEDSTL RYLQDLLAWV EENQHRVDGA EWGVDLPSVE AQLGSHRGLH QSIEEFRAKI
ERARSDEGQL SPATRGAYRD CLGRLDLQYA KLLNSSKARL RSLESLHSFV AAATKELMWL
NEKEEEEVGF DWSDRNTNMT AKKESYSALM RELELKEKKI KELQNAGDRL LREDHPARPT
VESFQAALQT QWSWMLQLCC CIEAHLKENA AYFQFFSDVR EAEGQLQKLQ EALRRKYSCD
RSATVTRLED LLQDAQDEKE QLNEYKGHLS GLAKRAKAVV QLKPRHPAHP MRGRLPLLAV
CDYKQVEVTV HKGDECQLVG PAQPSHWKVL SSSGSEAAVP SVCFLVPPPN QEAQEAVTRL
EAQHQALVTL WHQLHVDMKS LLAWQSLRRD VQLIRSWSLA TFRTLKPEEQ RQALHSLELH
YQAFLRDSQD AGGFGPEDRL MAEREYGSCS HHYQQLLQSL EQGAQEESRC QRCISELKDI
RLQLEACETR TVHRLRLPLD KEPARECAQR IAEQQKAQAE VEGLGKGVAR LSAEAEKVLA
LPEPSPAAPT LRSELELTLG KLEQVRSLSA IYLEKLKTIS LVIRGTQGAE EVLRAHEEQL
KEAQAVPATL PELEATKASL KKLRAQAEAQ QPTFDALRDE LRGAQEVGER LQQRHGERDV
EVERWRERVA QLLERWQAVL AQTDVRQREL EQLGRQLRYY RESADPLGAW LQDARRRQEQ
IQAMPLADSQ AVREQLRQEQ ALLEEIERHG EKVEECQRFA KQYINAIKDY ELQLVTYKAQ
LEPVASPAKK PKVQSGSESV IQEYVDLRTH YSELTTLTSQ YIKFISETLR RMEEEERLAE
QQRAEERERL AEVEAALEKQ RQLAEAHAQA KAQAEREAKE LQQRMQEEVV RREEAAVDAQ
QQKRSIQEEL QQLRQSSEAE IQAKARQAEA AERSRLRIEE EIRVVRLQLE ATERQRGGAE
GELQALRARA EEAEAQKRQA QEEAERLRRQ VQDESQRKRQ AEVELASRVK AEAEAAREKQ
RALQALEELR LQAEEAERRL RQAEVERARQ VQVALETAQR SAEAELQSKR ASFAEKTAQL
ERSLQEEHVA VAQLREEAER RAQQQAEAER AREEAERELE RWQLKANEAL RLRLQAEEVA
QQKSLAQAEA EKQKEEAERE ARRRGKAEEQ AVRQRELAEQ ELEKQRQLAE GTAQQRLAAE
QELIRLRAET EQGEQQRQLL EEELARLQRE AAAATQKRQE LEAELAKVRA EMEVLLASKA
RAEEESRSTS EKSKQRLEAE AGRFRELAEE AARLRALAEE AKRQRQLAEE DAARQRAEAE
RVLAEKLAAI GEATRLKTEA EIALKEKEAE NERLRRLAED EAFQRRRLEE QAAQHKADIE
ERLAQLRKAS DSELERQKGL VEDTLRQRRQ VEEEILALKA SFEKAAAGKA ELELELGRIR
SNAEDTLRSK EQAELEAARQ RQLAAEEERR RREAEERVQK SLAAEEEAAR QRKAALEEVE
RLKAKVEEAR RLRERAEQES ARQLQLAQEA AQKRLQAEEK AHAFAVQQKE QELQQTLQQE
QSVLDQLRGE AEAARRAAEE AEEARVQAER EAAQSRRQVE EAERLKQSAE EQAQARAQAQ
AAAEKLRKEA EQEAARRAQA EQAALRQKQA ADAEMEKHKK FAEQTLRQKA QVEQELTTLR
LQLEETDHQK NLLDEELQRL KAEATEAARQ RSQVEEELFS VRVQMEELSK LKARIEAENR
ALILRDKDNT QRFLQEEAEK MKQVAEEAAR LSVAAQEAAR LRQLAEEDLA QQRALAEKML
KEKMQAVQEA TRLKAEAELL QQQKELAQEQ ARRLQEDKEQ MAQQLAEETQ GFQRTLEAER
QRQLEMSAEA ERLKLRVAEM SRAQARAEED AQRFRKQAEE IGEKLHRTEL ATQEKVTLVQ
TLEIQRQQSD HDAERLREAI AELEREKEKL QQEAKLLQLK SEEMQTVQQE QLLQETQALQ
QSFLSEKDSL LQRERFIEQE KAKLEQLFQD EVAKAQQLRE EQQRQQQQME QERQRLVASM
EEARRRQHEA EEGVRRKQEE LQQLEQQRRQ QEELLAEENQ RLREQLQLLE EQHRAALAHS
EEVTASQVAA TKTLPNGRDA LDGPAAEAEP EHSFDGLRRK VSAQRLQEAG ILSAEELQRL
AQGHTTVDEL ARREDVRHYL QGRSSIAGLL LKATNEKLSV YAALQRQLLS PGTALILLEA
QAASGFLLDP VRNRRLTVNE AVKEGVVGPE LHHKLLSAER AVTGYKDPYT GQQISLFQAM
QKGLIVREHG IRLLEAQIAT GGVIDPVHSH RVPVDVAYRR GYFDEEMNRV LADPSDDTKG
FFDPNTHENL TYLQLLERCV EDPETGLCLL PLTDKAAKGG ELVYTDSEAR DVFEKATVSA
PFGKFQGKTV TIWEIINSEY FTAEQRRDLL RQFRTGRITV EKIIKIIITV VEEQEQKGRL
CFEGLRSLVP AAELLESRVI DRELYQQLQR GERSVRDVAE VDTVRRALRG ANVIAGVWLE
EAGQKLSIYN ALKKDLLPSD MAVALLEAQA GTGHIIDPAT SARLTVDEAV RAGLVGPEFH
EKLLSAEKAV TGYRDPYTGQ SVSLFQALKK GLIPREQGLR LLDAQLSTGG IVDPSKSHRV
PLDVACARGC LDEETSRALS APRADAKAYS DPSTGEPATY GELQQRCRPD QLTGLSLLPL
SEKAARARQE ELYSELQARE TFEKTPVEVP VGGFKGRTVT VWELISSEYF TAEQRQELLR
QFRTGKVTVE KVIKILITIV EEVETLRQER LSFSGLRAPV PASELLASGV LSRAQFEQLK
DGKTTVKDLS ELGSVRTLLQ GSGCLAGIYL EDTKEKVSIY EAMRRGLLRA TTAALLLEAQ
AATGFLVDPV RNQRLYVHEA VKAGVVGPEL HEQLLSAEKA VTGYRDPYSG STISLFQAMQ
KGLVLRQHGI RLLEAQIATG GIIDPVHSHR VPVDVAYQRG YFSEEMNRVL ADPSDDTKGF
FDPNTHENLT YRQLLERCVE DPETGLRLLP LKGAEKAEVV ETTQVYTEEE TRRAFEETQI
DIPGGGSHGG STMSLWEVMQ SDLIPEEQRA QLMADFQAGR VTKERMIIII IEIIEKTEII
RQQGLASYDY VRRRLTAEDL FEARIISLET YNLLREGTRS LREALEAESA WCYLYGTGSV
AGVYLPGSRQ TLSIYQALKK GLLSAEVARL LLEAQAATGF LLDPVKGERL TVDEAVRKGL
VGPELHDRLL SAERAVTGYR DPYTEQTISL FQAMKKELIP TEEALRLLDA QLATGGIVDP
RLGFHLPLEV AYQRGYLNKD THDQLSEPSE VRSYVDPSTD ERLSYTQLLR RCRRDDGTGQ
LLLPLSDARK LTFRGLRKQI TMEELVRSQV MDEATALQLR EGLTSIEEVT KNLQKFLEGT
SCIAGVFVDA TKERLSVYQA MKKGIIRPGT AFELLEAQAA TGYVIDPIKG LKLTVEEAVR
MGIVGPEFKD KLLSAERAVT GYKDPYSGKL ISLFQAMKKG LILKDHGIRL LEAQIATGGI
IDPEESHRLP VEVAYKRGLF DEEMNEILTD PSDDTKGFFD PNTEENLTYL QLMERCITDP
QTGLCLLPLK EKKRERKTSS KSSVRKRRVV IVDPETGKEM SVYEAYRKGL IDHQTYLELS
EQECEWEEIT ISSSDGVVKS MIIDRRSGRQ YDIDDAIAKN LIDRSALDQY RAGTLSITEF
ADMLSGNAGG FRSRSSSVGS SSSYPISPAV SRTQLASWSD PTEETGPVAG ILDTETLEKV
SITEAMHRNL VDNITGQRLL EAQACTGGII DPSTGERFPV TDAVNKGLVD KIMVDRINLA
QKAFCGFEDP RTKTKMSAAQ ALKKGWLYYE AGQRFLEVQY LTGGLIEPDT PGRVPLDEAL
QRGTVDARTA QKLRDVGAYS KYLTCPKTKL KISYKDALDR SMVEEGTGLR LLEAAAQSTK
GYYSPYSVSG SGSTAGSRTG SRTGSRAGSR RGSFDATGSG FSMTFSSSSY SSSGYGRRYA
SGSSASLGGP ESAVA*

mutated AA sequence

MKIVPDERDR VQKKTFTKWV NKHLIKAQRH ISDLYEDLRD GHNLISLLEV LSGDSLPREK
GRMRFHKLQN VQIALDYLRH RQVKLVNIRN DDIADGNPKL TLGLIWTIIL HFQISDIQVS
GQSEDMTAKE KLLLWSQRMV EGYQGLRCDN FTSSWRDGRL FNAIIHRHKP LLIDMNKVYR
QTNLENLDQA FSVAERDLGV TRLLDPEDVD VPQPDEKSII TYVSSLYDAM PRVPDVQDGV
RANELQLRWQ EYRELVLLLL QWMRHHTAAF EERRFPSSFE EIEILWSQFL KFKEMELPAK
EADKNRSKGI YQSLEGAVQA GQLKVPPGYH PLDVEKEWGK LHVAILEREK QLRSEFERLE
CLQRIVTKLQ MEAGLCEEQL NQADALLQSD VRLLAAGKVP QRAGEVERDL DKADSMIRLL
FNDVQTLKDG RHPQGEQMYR RVYRLHERLV AIRTEYNLRL KAGVAAPATQ VAQVTLQSVQ
RRPELEDSTL RYLQDLLAWV EENQHRVDGA EWGVDLPSVE AQLGSHRGLH QSIEEFRAKI
ERARSDEGQL SPATRGAYRD CLGRLDLQYA KLLNSSKARL RSLESLHSFV AAATKELMWL
NEKEEEEVGF DWSDRNTNMT AKKESYSALM RELELKEKKI KELQNAGDRL LREDHPARPT
VESFQAALQT QWSWMLQLCC CIEAHLKENA AYFQFFSDVR EAEGQLQKLQ EALRRKYSCD
RSATVTRLED LLQDAQDEKE QLNEYKGHLS GLAKRAKAVV QLKPRHPAHP MRGRLPLLAV
CDYKQVEVTV HKGDECQLVG PAQPSHWKVL SSSGSEAAVP SVCFLVPPPN QEAQEAVTRL
EAQHQALVTL WHQLHVDMKS LLAWQSLRRD VQLIRSWSLA TFRTLKPEEQ RQALHSLELH
YQAFLRDSQD AGGFGPEDRL MAEREYGSCS HHYQQLLQSL EQGAQEESRC QRCISELKDI
RLQLEACETR TVHRLRLPLD KEPARECAQR IAEQQKAQAE VEGLGKGVAR LSAEAEKVLA
LPEPSPAAPT LRSELELTLG KLEQVRSLSA IYLEKLKTIS LVIRGTQGAE EVLRAHEEQL
KEAQAVPATL PELEATKASL KKLRAQAEAQ QPTFDALRDE LRGAQEVGER LQQRHGERDV
EVERWRERVA QLLERWQAVL AQTDVRQREL EQLGRQLRYY RESADPLGAW LQDARRRQEQ
IQAMPLADSQ AVREQLRQEQ ALLEEIERHG EKVEECQRFA KQYINAIKDY ELQLVTYKAQ
LEPVASPAKK PKVQSGSESV IQEYVDLRTH YSELTTLTSQ YIKFISETLR RMEEEERLAE
QQRAEERERL AEVEAALEKQ RQLAEAHAQA KAQAEREAKE LQQRMQEEVV RREEAAVDAQ
QQKRSIQEEL QQLRQSSEAE IQAKARQAEA AERSRLRIEE EIRVVRLQLE ATERQRGGAE
GELQALRARA EEAEAQKRQA QEEAERLRRQ VQDESQRKRQ AEVELASRVK AEAEAAREKQ
RALQALEELR LQAEEAERRL RQAEVERARQ VQVALETAQR SAEAELQSKR ASFAEKTAQL
ERSLQEEHVA VAQLREEAER RAQQQAEAER AREEAERELE RWQLKANEAL RLRLQAEEVA
QQKSLAQAEA EKQKEEAERE ARRRGKAEEQ AVRQRELAEQ ELEKQRQLAE GTAQQRLAAE
QELIRLRAET EQGEQQRQLL EEELARLQRE AAAATQKRQE LEAELAKVRA EMEVLLASKA
RAEEESRSTS EKSKQRLEAE AGRFRELAEE AARLRALAEE AKRQRQLAEE DAARQRAEAE
RVLAEKLAAI GEATRLKTEA EIALKEKEAE NERLRRLAED EAFQRRRLEE QAAQHKADIE
ERLAQLRKAS DSELERQKGL VEDTLRQRRQ VEEEILALKA SFEKAAAGKA ELELELGRIR
SNAEDTLRSK EQAELEAARQ RQLAAEEERR RREAEERVQK SLAAEEEAAR QRKAALEEVE
RLKAKVEEAR RLRERAEQES ARQLQLAQEA AQKRLQAEEK AHAFAVQQKE QELQQTLQQE
QSVLDQLRGE AEAARRAAEE AEEARVQAER EAAQSRRQVE EAERLKQSAE EQAQARAQAQ
AAAEKLRKEA EQEAARRAQA EQAALRQKQA ADAEMEKHKK FAEQTLRQKA QVEQELTTLR
LQLEETDHQK NLLDEELQRL KAEATEAARQ RSQVEEELFS VRVQMEELSK LKARIEAENR
ALILRDKDNT QRFLQEEAEK MKQVAEEAAR LSVAAQEAAR LRQLAEEDLA QQRALAEKML
KEKMQAVQEA TRLKAEAELL QQQKELAQEQ ARRLQEDKEQ MAQQLAEETQ GFQRTLEAER
QRQLEMSAEA ERLKLRVAEM SRAQARAEED AQRFRKQAEE IGEKLHRTEL ATQEKVTLVQ
TLEIQRQQSD HDAERLREAI AELEREKEKL QQEAKLLQLK SEEMQTVQQE QLLQETQALQ
QSFLSEKDSL LQRERFIEQE KAKLEQLFQD EVAKAQQLRE EQQRQQQQME QERQRLVASM
EEARRRQHEA EEGVRRKQEE LQQLEQQRRQ QEELLAEENQ RLREQLQLLE EQHRAALAHS
EEVTASQVAA TKTLPNGRDA LDGPAAEAEP EHSFDGLRRK VPAQRLQEAG ILSAEELQRL
AQGHTTVDEL ARREDVRHYL QGRSSIAGLL LKATNEKLSV YAALQRQLLS PGTALILLEA
QAASGFLLDP VRNRRLTVNE AVKEGVVGPE LHHKLLSAER AVTGYKDPYT GQQISLFQAM
QKGLIVREHG IRLLEAQIAT GGVIDPVHSH RVPVDVAYRR GYFDEEMNRV LADPSDDTKG
FFDPNTHENL TYLQLLERCV EDPETGLCLL PLTDKAAKGG ELVYTDSEAR DVFEKATVSA
PFGKFQGKTV TIWEIINSEY FTAEQRRDLL RQFRTGRITV EKIIKIIITV VEEQEQKGRL
CFEGLRSLVP AAELLESRVI DRELYQQLQR GERSVRDVAE VDTVRRALRG ANVIAGVWLE
EAGQKLSIYN ALKKDLLPSD MAVALLEAQA GTGHIIDPAT SARLTVDEAV RAGLVGPEFH
EKLLSAEKAV TGYRDPYTGQ SVSLFQALKK GLIPREQGLR LLDAQLSTGG IVDPSKSHRV
PLDVACARGC LDEETSRALS APRADAKAYS DPSTGEPATY GELQQRCRPD QLTGLSLLPL
SEKAARARQE ELYSELQARE TFEKTPVEVP VGGFKGRTVT VWELISSEYF TAEQRQELLR
QFRTGKVTVE KVIKILITIV EEVETLRQER LSFSGLRAPV PASELLASGV LSRAQFEQLK
DGKTTVKDLS ELGSVRTLLQ GSGCLAGIYL EDTKEKVSIY EAMRRGLLRA TTAALLLEAQ
AATGFLVDPV RNQRLYVHEA VKAGVVGPEL HEQLLSAEKA VTGYRDPYSG STISLFQAMQ
KGLVLRQHGI RLLEAQIATG GIIDPVHSHR VPVDVAYQRG YFSEEMNRVL ADPSDDTKGF
FDPNTHENLT YRQLLERCVE DPETGLRLLP LKGAEKAEVV ETTQVYTEEE TRRAFEETQI
DIPGGGSHGG STMSLWEVMQ SDLIPEEQRA QLMADFQAGR VTKERMIIII IEIIEKTEII
RQQGLASYDY VRRRLTAEDL FEARIISLET YNLLREGTRS LREALEAESA WCYLYGTGSV
AGVYLPGSRQ TLSIYQALKK GLLSAEVARL LLEAQAATGF LLDPVKGERL TVDEAVRKGL
VGPELHDRLL SAERAVTGYR DPYTEQTISL FQAMKKELIP TEEALRLLDA QLATGGIVDP
RLGFHLPLEV AYQRGYLNKD THDQLSEPSE VRSYVDPSTD ERLSYTQLLR RCRRDDGTGQ
LLLPLSDARK LTFRGLRKQI TMEELVRSQV MDEATALQLR EGLTSIEEVT KNLQKFLEGT
SCIAGVFVDA TKERLSVYQA MKKGIIRPGT AFELLEAQAA TGYVIDPIKG LKLTVEEAVR
MGIVGPEFKD KLLSAERAVT GYKDPYSGKL ISLFQAMKKG LILKDHGIRL LEAQIATGGI
IDPEESHRLP VEVAYKRGLF DEEMNEILTD PSDDTKGFFD PNTEENLTYL QLMERCITDP
QTGLCLLPLK EKKRERKTSS KSSVRKRRVV IVDPETGKEM SVYEAYRKGL IDHQTYLELS
EQECEWEEIT ISSSDGVVKS MIIDRRSGRQ YDIDDAIAKN LIDRSALDQY RAGTLSITEF
ADMLSGNAGG FRSRSSSVGS SSSYPISPAV SRTQLASWSD PTEETGPVAG ILDTETLEKV
SITEAMHRNL VDNITGQRLL EAQACTGGII DPSTGERFPV TDAVNKGLVD KIMVDRINLA
QKAFCGFEDP RTKTKMSAAQ ALKKGWLYYE AGQRFLEVQY LTGGLIEPDT PGRVPLDEAL
QRGTVDARTA QKLRDVGAYS KYLTCPKTKL KISYKDALDR SMVEEGTGLR LLEAAAQSTK
GYYSPYSVSG SGSTAGSRTG SRTGSRAGSR RGSFDATGSG FSMTFSSSSY SSSGYGRRYA
SGSSASLGGP ESAVA*

speed

1.40 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999727159578415 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:144996029A>GN/A show variant in all transcripts IGV

HGNC symbol

PLEC

Ensembl transcript ID

ENST00000354958

Genbank transcript ID

NM_201379

UniProt peptide

Q15149

alteration type

single base exchange

alteration region

CDS

DNA changes

c.7894T>C
cDNA.8043T>C
g.54874T>C

AA changes

S2632P Score: 74 explain score(s)

position(s) of altered AA
if AA alteration in CDS

2632

frameshift

known variant

Reference ID: rs7833924

database	homozygous (G/G)	heterozygous	allele carriers
1000G	736	865	1601
ExAC	10289	12189	22478

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.03	0.983
	0.621	0.98
(flanking)	0.034	0.978

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	54876	wt: 0.7442 / mu: 0.7665 (marginal change - not scored)	wt: GTGTCAGCTCAGAGG mu: GTGCCAGCTCAGAGG	GTCA\|gctc
Donor marginally increased	54865	wt: 0.9267 / mu: 0.9722 (marginal change - not scored)	wt: TGCGGCGGAAGGTGT mu: TGCGGCGGAAGGTGC	CGGC\|ggaa
Donor gained	54878	0.51	mu: GCCAGCTCAGAGGCT	CAGC\|tcag

distance from splice site

535

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

2632

mutated

not conserved

2632

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000000388

2791

Fcatus

not conserved

ENSFCAG00000001046

3113

Mmusculus

not conserved

ENSMUSG00000022565

2799

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000003715

2794

Drerio

not conserved

ENSDARG00000021987

2673

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1469	2756	COILED	Potential.	lost
1471	2755	REGION	Central fibrous rod domain.	lost
2755	2755	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2756	4684	REGION	Globular 2.	might get lost (downstream of altered splice site)
2814	2814	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2826	2863	REPEAT	Plectin 1.	might get lost (downstream of altered splice site)
2841	2841	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2864	2901	REPEAT	Plectin 2.	might get lost (downstream of altered splice site)
2902	2939	REPEAT	Plectin 3.	might get lost (downstream of altered splice site)
2940	2977	REPEAT	Plectin 4.	might get lost (downstream of altered splice site)
2981	3015	REPEAT	Plectin 5.	might get lost (downstream of altered splice site)
3027	3027	CONFLICT	K -> E (in Ref. 2; AAB05427/AAB05428).	might get lost (downstream of altered splice site)
3033	3033	MOD_RES	Phosphotyrosine (By similarity).	might get lost (downstream of altered splice site)
3091	3091	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
3116	3153	REPEAT	Plectin 6.	might get lost (downstream of altered splice site)
3154	3191	REPEAT	Plectin 7.	might get lost (downstream of altered splice site)
3192	3229	REPEAT	Plectin 8.	might get lost (downstream of altered splice site)
3230	3267	REPEAT	Plectin 9.	might get lost (downstream of altered splice site)
3268	3305	REPEAT	Plectin 10.	might get lost (downstream of altered splice site)
3306	3343	REPEAT	Plectin 11.	might get lost (downstream of altered splice site)
3310	3310	CONFLICT	A -> E (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3361	3361	CONFLICT	L -> F (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3362	3362	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
3408	3408	CONFLICT	L -> F (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3420	3420	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
3447	3447	CONFLICT	A -> S (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3485	3522	REPEAT	Plectin 12.	might get lost (downstream of altered splice site)
3523	3560	REPEAT	Plectin 13.	might get lost (downstream of altered splice site)
3531	3531	CONFLICT	A -> G (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3561	3598	REPEAT	Plectin 14.	might get lost (downstream of altered splice site)
3580	3580	CONFLICT	S -> R (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3589	3589	CONFLICT	Q -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3596	3596	CONFLICT	Q -> E (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3599	3636	REPEAT	Plectin 15.	might get lost (downstream of altered splice site)
3616	3616	CONFLICT	H -> N (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3640	3674	REPEAT	Plectin 16.	might get lost (downstream of altered splice site)
3686	3686	CONFLICT	A -> V (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3786	3786	CONFLICT	A -> G (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3808	3808	CONFLICT	R -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3816	3816	CONFLICT	A -> G (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3820	3857	REPEAT	Plectin 17.	might get lost (downstream of altered splice site)
3821	3821	CONFLICT	C -> F (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3858	3895	REPEAT	Plectin 18.	might get lost (downstream of altered splice site)
3896	3933	REPEAT	Plectin 19.	might get lost (downstream of altered splice site)
3915	3915	CONFLICT	Q -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3934	3971	REPEAT	Plectin 20.	might get lost (downstream of altered splice site)
3975	4008	REPEAT	Plectin 21.	might get lost (downstream of altered splice site)
3999	3999	CONFLICT	R -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
4007	4007	CONFLICT	T -> S (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
4030	4030	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4063	4100	REPEAT	Plectin 22.	might get lost (downstream of altered splice site)
4101	4138	REPEAT	Plectin 23.	might get lost (downstream of altered splice site)
4139	4176	REPEAT	Plectin 24.	might get lost (downstream of altered splice site)
4155	4155	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4177	4214	REPEAT	Plectin 25.	might get lost (downstream of altered splice site)
4218	4252	REPEAT	Plectin 26.	might get lost (downstream of altered splice site)
4250	4300	REGION	Binding to intermediate filaments (By similarity).	might get lost (downstream of altered splice site)
4265	4305	REPEAT	Plectin 27.	might get lost (downstream of altered splice site)
4319	4356	REPEAT	Plectin 28.	might get lost (downstream of altered splice site)
4382	4382	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4384	4384	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4385	4385	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4386	4386	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4389	4389	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4390	4390	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4391	4391	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
4392	4392	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4393	4393	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4396	4396	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4400	4400	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4402	4402	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4408	4445	REPEAT	Plectin 29.	might get lost (downstream of altered splice site)
4411	4411	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4446	4483	REPEAT	Plectin 30.	might get lost (downstream of altered splice site)
4467	4467	CONFLICT	F -> L (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
4484	4521	REPEAT	Plectin 31.	might get lost (downstream of altered splice site)
4522	4559	REPEAT	Plectin 32.	might get lost (downstream of altered splice site)
4539	4539	MOD_RES	Phosphothreonine; by CDK1 (By similarity).	might get lost (downstream of altered splice site)
4560	4597	REPEAT	Plectin 33.	might get lost (downstream of altered splice site)
4611	4611	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4613	4613	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4615	4615	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4618	4618	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4620	4620	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4622	4622	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4623	4623	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4625	4640	REGION	4 X 4 AA tandem repeats of G-S-R-X.	might get lost (downstream of altered splice site)
4626	4626	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4628	4628	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4642	4642	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4658	4658	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4675	4675	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

13578 / 13578

position (AA) of stopcodon in wt / mu AA sequence

4526 / 4526

position of stopcodon in wt / mu cDNA

13727 / 13727

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

150 / 150

chromosome

strand

-1

last intron/exon boundary

7509

theoretical NMD boundary in CDS

7309

length of CDS

13578

coding sequence (CDS) position

7894

cDNA position
(for ins/del: last normal base / first normal base)

8043

gDNA position
(for ins/del: last normal base / first normal base)

54874

chromosomal position
(for ins/del: last normal base / first normal base)

144996029

original gDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGTCAGCTCAGAGGCTGCAGGAG

altered gDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGCCAGCTCAGAGGCTGCAGGAG

original cDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGTCAGCTCAGAGGCTGCAGGAG

altered cDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGCCAGCTCAGAGGCTGCAGGAG

wildtype AA sequence

MDPSRAIQNE ISSLKDERDR VQKKTFTKWV NKHLIKAQRH ISDLYEDLRD GHNLISLLEV
LSGDSLPREK GRMRFHKLQN VQIALDYLRH RQVKLVNIRN DDIADGNPKL TLGLIWTIIL
HFQISDIQVS GQSEDMTAKE KLLLWSQRMV EGYQGLRCDN FTSSWRDGRL FNAIIHRHKP
LLIDMNKVYR QTNLENLDQA FSVAERDLGV TRLLDPEDVD VPQPDEKSII TYVSSLYDAM
PRVPDVQDGV RANELQLRWQ EYRELVLLLL QWMRHHTAAF EERRFPSSFE EIEILWSQFL
KFKEMELPAK EADKNRSKGI YQSLEGAVQA GQLKVPPGYH PLDVEKEWGK LHVAILEREK
QLRSEFERLE CLQRIVTKLQ MEAGLCEEQL NQADALLQSD VRLLAAGKVP QRAGEVERDL
DKADSMIRLL FNDVQTLKDG RHPQGEQMYR RVYRLHERLV AIRTEYNLRL KAGVAAPATQ
VAQVTLQSVQ RRPELEDSTL RYLQDLLAWV EENQHRVDGA EWGVDLPSVE AQLGSHRGLH
QSIEEFRAKI ERARSDEGQL SPATRGAYRD CLGRLDLQYA KLLNSSKARL RSLESLHSFV
AAATKELMWL NEKEEEEVGF DWSDRNTNMT AKKESYSALM RELELKEKKI KELQNAGDRL
LREDHPARPT VESFQAALQT QWSWMLQLCC CIEAHLKENA AYFQFFSDVR EAEGQLQKLQ
EALRRKYSCD RSATVTRLED LLQDAQDEKE QLNEYKGHLS GLAKRAKAVV QLKPRHPAHP
MRGRLPLLAV CDYKQVEVTV HKGDECQLVG PAQPSHWKVL SSSGSEAAVP SVCFLVPPPN
QEAQEAVTRL EAQHQALVTL WHQLHVDMKS LLAWQSLRRD VQLIRSWSLA TFRTLKPEEQ
RQALHSLELH YQAFLRDSQD AGGFGPEDRL MAEREYGSCS HHYQQLLQSL EQGAQEESRC
QRCISELKDI RLQLEACETR TVHRLRLPLD KEPARECAQR IAEQQKAQAE VEGLGKGVAR
LSAEAEKVLA LPEPSPAAPT LRSELELTLG KLEQVRSLSA IYLEKLKTIS LVIRGTQGAE
EVLRAHEEQL KEAQAVPATL PELEATKASL KKLRAQAEAQ QPTFDALRDE LRGAQEVGER
LQQRHGERDV EVERWRERVA QLLERWQAVL AQTDVRQREL EQLGRQLRYY RESADPLGAW
LQDARRRQEQ IQAMPLADSQ AVREQLRQEQ ALLEEIERHG EKVEECQRFA KQYINAIKDY
ELQLVTYKAQ LEPVASPAKK PKVQSGSESV IQEYVDLRTH YSELTTLTSQ YIKFISETLR
RMEEEERLAE QQRAEERERL AEVEAALEKQ RQLAEAHAQA KAQAEREAKE LQQRMQEEVV
RREEAAVDAQ QQKRSIQEEL QQLRQSSEAE IQAKARQAEA AERSRLRIEE EIRVVRLQLE
ATERQRGGAE GELQALRARA EEAEAQKRQA QEEAERLRRQ VQDESQRKRQ AEVELASRVK
AEAEAAREKQ RALQALEELR LQAEEAERRL RQAEVERARQ VQVALETAQR SAEAELQSKR
ASFAEKTAQL ERSLQEEHVA VAQLREEAER RAQQQAEAER AREEAERELE RWQLKANEAL
RLRLQAEEVA QQKSLAQAEA EKQKEEAERE ARRRGKAEEQ AVRQRELAEQ ELEKQRQLAE
GTAQQRLAAE QELIRLRAET EQGEQQRQLL EEELARLQRE AAAATQKRQE LEAELAKVRA
EMEVLLASKA RAEEESRSTS EKSKQRLEAE AGRFRELAEE AARLRALAEE AKRQRQLAEE
DAARQRAEAE RVLAEKLAAI GEATRLKTEA EIALKEKEAE NERLRRLAED EAFQRRRLEE
QAAQHKADIE ERLAQLRKAS DSELERQKGL VEDTLRQRRQ VEEEILALKA SFEKAAAGKA
ELELELGRIR SNAEDTLRSK EQAELEAARQ RQLAAEEERR RREAEERVQK SLAAEEEAAR
QRKAALEEVE RLKAKVEEAR RLRERAEQES ARQLQLAQEA AQKRLQAEEK AHAFAVQQKE
QELQQTLQQE QSVLDQLRGE AEAARRAAEE AEEARVQAER EAAQSRRQVE EAERLKQSAE
EQAQARAQAQ AAAEKLRKEA EQEAARRAQA EQAALRQKQA ADAEMEKHKK FAEQTLRQKA
QVEQELTTLR LQLEETDHQK NLLDEELQRL KAEATEAARQ RSQVEEELFS VRVQMEELSK
LKARIEAENR ALILRDKDNT QRFLQEEAEK MKQVAEEAAR LSVAAQEAAR LRQLAEEDLA
QQRALAEKML KEKMQAVQEA TRLKAEAELL QQQKELAQEQ ARRLQEDKEQ MAQQLAEETQ
GFQRTLEAER QRQLEMSAEA ERLKLRVAEM SRAQARAEED AQRFRKQAEE IGEKLHRTEL
ATQEKVTLVQ TLEIQRQQSD HDAERLREAI AELEREKEKL QQEAKLLQLK SEEMQTVQQE
QLLQETQALQ QSFLSEKDSL LQRERFIEQE KAKLEQLFQD EVAKAQQLRE EQQRQQQQME
QERQRLVASM EEARRRQHEA EEGVRRKQEE LQQLEQQRRQ QEELLAEENQ RLREQLQLLE
EQHRAALAHS EEVTASQVAA TKTLPNGRDA LDGPAAEAEP EHSFDGLRRK VSAQRLQEAG
ILSAEELQRL AQGHTTVDEL ARREDVRHYL QGRSSIAGLL LKATNEKLSV YAALQRQLLS
PGTALILLEA QAASGFLLDP VRNRRLTVNE AVKEGVVGPE LHHKLLSAER AVTGYKDPYT
GQQISLFQAM QKGLIVREHG IRLLEAQIAT GGVIDPVHSH RVPVDVAYRR GYFDEEMNRV
LADPSDDTKG FFDPNTHENL TYLQLLERCV EDPETGLCLL PLTDKAAKGG ELVYTDSEAR
DVFEKATVSA PFGKFQGKTV TIWEIINSEY FTAEQRRDLL RQFRTGRITV EKIIKIIITV
VEEQEQKGRL CFEGLRSLVP AAELLESRVI DRELYQQLQR GERSVRDVAE VDTVRRALRG
ANVIAGVWLE EAGQKLSIYN ALKKDLLPSD MAVALLEAQA GTGHIIDPAT SARLTVDEAV
RAGLVGPEFH EKLLSAEKAV TGYRDPYTGQ SVSLFQALKK GLIPREQGLR LLDAQLSTGG
IVDPSKSHRV PLDVACARGC LDEETSRALS APRADAKAYS DPSTGEPATY GELQQRCRPD
QLTGLSLLPL SEKAARARQE ELYSELQARE TFEKTPVEVP VGGFKGRTVT VWELISSEYF
TAEQRQELLR QFRTGKVTVE KVIKILITIV EEVETLRQER LSFSGLRAPV PASELLASGV
LSRAQFEQLK DGKTTVKDLS ELGSVRTLLQ GSGCLAGIYL EDTKEKVSIY EAMRRGLLRA
TTAALLLEAQ AATGFLVDPV RNQRLYVHEA VKAGVVGPEL HEQLLSAEKA VTGYRDPYSG
STISLFQAMQ KGLVLRQHGI RLLEAQIATG GIIDPVHSHR VPVDVAYQRG YFSEEMNRVL
ADPSDDTKGF FDPNTHENLT YRQLLERCVE DPETGLRLLP LKGAEKAEVV ETTQVYTEEE
TRRAFEETQI DIPGGGSHGG STMSLWEVMQ SDLIPEEQRA QLMADFQAGR VTKERMIIII
IEIIEKTEII RQQGLASYDY VRRRLTAEDL FEARIISLET YNLLREGTRS LREALEAESA
WCYLYGTGSV AGVYLPGSRQ TLSIYQALKK GLLSAEVARL LLEAQAATGF LLDPVKGERL
TVDEAVRKGL VGPELHDRLL SAERAVTGYR DPYTEQTISL FQAMKKELIP TEEALRLLDA
QLATGGIVDP RLGFHLPLEV AYQRGYLNKD THDQLSEPSE VRSYVDPSTD ERLSYTQLLR
RCRRDDGTGQ LLLPLSDARK LTFRGLRKQI TMEELVRSQV MDEATALQLR EGLTSIEEVT
KNLQKFLEGT SCIAGVFVDA TKERLSVYQA MKKGIIRPGT AFELLEAQAA TGYVIDPIKG
LKLTVEEAVR MGIVGPEFKD KLLSAERAVT GYKDPYSGKL ISLFQAMKKG LILKDHGIRL
LEAQIATGGI IDPEESHRLP VEVAYKRGLF DEEMNEILTD PSDDTKGFFD PNTEENLTYL
QLMERCITDP QTGLCLLPLK EKKRERKTSS KSSVRKRRVV IVDPETGKEM SVYEAYRKGL
IDHQTYLELS EQECEWEEIT ISSSDGVVKS MIIDRRSGRQ YDIDDAIAKN LIDRSALDQY
RAGTLSITEF ADMLSGNAGG FRSRSSSVGS SSSYPISPAV SRTQLASWSD PTEETGPVAG
ILDTETLEKV SITEAMHRNL VDNITGQRLL EAQACTGGII DPSTGERFPV TDAVNKGLVD
KIMVDRINLA QKAFCGFEDP RTKTKMSAAQ ALKKGWLYYE AGQRFLEVQY LTGGLIEPDT
PGRVPLDEAL QRGTVDARTA QKLRDVGAYS KYLTCPKTKL KISYKDALDR SMVEEGTGLR
LLEAAAQSTK GYYSPYSVSG SGSTAGSRTG SRTGSRAGSR RGSFDATGSG FSMTFSSSSY
SSSGYGRRYA SGSSASLGGP ESAVA*

mutated AA sequence

MDPSRAIQNE ISSLKDERDR VQKKTFTKWV NKHLIKAQRH ISDLYEDLRD GHNLISLLEV
LSGDSLPREK GRMRFHKLQN VQIALDYLRH RQVKLVNIRN DDIADGNPKL TLGLIWTIIL
HFQISDIQVS GQSEDMTAKE KLLLWSQRMV EGYQGLRCDN FTSSWRDGRL FNAIIHRHKP
LLIDMNKVYR QTNLENLDQA FSVAERDLGV TRLLDPEDVD VPQPDEKSII TYVSSLYDAM
PRVPDVQDGV RANELQLRWQ EYRELVLLLL QWMRHHTAAF EERRFPSSFE EIEILWSQFL
KFKEMELPAK EADKNRSKGI YQSLEGAVQA GQLKVPPGYH PLDVEKEWGK LHVAILEREK
QLRSEFERLE CLQRIVTKLQ MEAGLCEEQL NQADALLQSD VRLLAAGKVP QRAGEVERDL
DKADSMIRLL FNDVQTLKDG RHPQGEQMYR RVYRLHERLV AIRTEYNLRL KAGVAAPATQ
VAQVTLQSVQ RRPELEDSTL RYLQDLLAWV EENQHRVDGA EWGVDLPSVE AQLGSHRGLH
QSIEEFRAKI ERARSDEGQL SPATRGAYRD CLGRLDLQYA KLLNSSKARL RSLESLHSFV
AAATKELMWL NEKEEEEVGF DWSDRNTNMT AKKESYSALM RELELKEKKI KELQNAGDRL
LREDHPARPT VESFQAALQT QWSWMLQLCC CIEAHLKENA AYFQFFSDVR EAEGQLQKLQ
EALRRKYSCD RSATVTRLED LLQDAQDEKE QLNEYKGHLS GLAKRAKAVV QLKPRHPAHP
MRGRLPLLAV CDYKQVEVTV HKGDECQLVG PAQPSHWKVL SSSGSEAAVP SVCFLVPPPN
QEAQEAVTRL EAQHQALVTL WHQLHVDMKS LLAWQSLRRD VQLIRSWSLA TFRTLKPEEQ
RQALHSLELH YQAFLRDSQD AGGFGPEDRL MAEREYGSCS HHYQQLLQSL EQGAQEESRC
QRCISELKDI RLQLEACETR TVHRLRLPLD KEPARECAQR IAEQQKAQAE VEGLGKGVAR
LSAEAEKVLA LPEPSPAAPT LRSELELTLG KLEQVRSLSA IYLEKLKTIS LVIRGTQGAE
EVLRAHEEQL KEAQAVPATL PELEATKASL KKLRAQAEAQ QPTFDALRDE LRGAQEVGER
LQQRHGERDV EVERWRERVA QLLERWQAVL AQTDVRQREL EQLGRQLRYY RESADPLGAW
LQDARRRQEQ IQAMPLADSQ AVREQLRQEQ ALLEEIERHG EKVEECQRFA KQYINAIKDY
ELQLVTYKAQ LEPVASPAKK PKVQSGSESV IQEYVDLRTH YSELTTLTSQ YIKFISETLR
RMEEEERLAE QQRAEERERL AEVEAALEKQ RQLAEAHAQA KAQAEREAKE LQQRMQEEVV
RREEAAVDAQ QQKRSIQEEL QQLRQSSEAE IQAKARQAEA AERSRLRIEE EIRVVRLQLE
ATERQRGGAE GELQALRARA EEAEAQKRQA QEEAERLRRQ VQDESQRKRQ AEVELASRVK
AEAEAAREKQ RALQALEELR LQAEEAERRL RQAEVERARQ VQVALETAQR SAEAELQSKR
ASFAEKTAQL ERSLQEEHVA VAQLREEAER RAQQQAEAER AREEAERELE RWQLKANEAL
RLRLQAEEVA QQKSLAQAEA EKQKEEAERE ARRRGKAEEQ AVRQRELAEQ ELEKQRQLAE
GTAQQRLAAE QELIRLRAET EQGEQQRQLL EEELARLQRE AAAATQKRQE LEAELAKVRA
EMEVLLASKA RAEEESRSTS EKSKQRLEAE AGRFRELAEE AARLRALAEE AKRQRQLAEE
DAARQRAEAE RVLAEKLAAI GEATRLKTEA EIALKEKEAE NERLRRLAED EAFQRRRLEE
QAAQHKADIE ERLAQLRKAS DSELERQKGL VEDTLRQRRQ VEEEILALKA SFEKAAAGKA
ELELELGRIR SNAEDTLRSK EQAELEAARQ RQLAAEEERR RREAEERVQK SLAAEEEAAR
QRKAALEEVE RLKAKVEEAR RLRERAEQES ARQLQLAQEA AQKRLQAEEK AHAFAVQQKE
QELQQTLQQE QSVLDQLRGE AEAARRAAEE AEEARVQAER EAAQSRRQVE EAERLKQSAE
EQAQARAQAQ AAAEKLRKEA EQEAARRAQA EQAALRQKQA ADAEMEKHKK FAEQTLRQKA
QVEQELTTLR LQLEETDHQK NLLDEELQRL KAEATEAARQ RSQVEEELFS VRVQMEELSK
LKARIEAENR ALILRDKDNT QRFLQEEAEK MKQVAEEAAR LSVAAQEAAR LRQLAEEDLA
QQRALAEKML KEKMQAVQEA TRLKAEAELL QQQKELAQEQ ARRLQEDKEQ MAQQLAEETQ
GFQRTLEAER QRQLEMSAEA ERLKLRVAEM SRAQARAEED AQRFRKQAEE IGEKLHRTEL
ATQEKVTLVQ TLEIQRQQSD HDAERLREAI AELEREKEKL QQEAKLLQLK SEEMQTVQQE
QLLQETQALQ QSFLSEKDSL LQRERFIEQE KAKLEQLFQD EVAKAQQLRE EQQRQQQQME
QERQRLVASM EEARRRQHEA EEGVRRKQEE LQQLEQQRRQ QEELLAEENQ RLREQLQLLE
EQHRAALAHS EEVTASQVAA TKTLPNGRDA LDGPAAEAEP EHSFDGLRRK VPAQRLQEAG
ILSAEELQRL AQGHTTVDEL ARREDVRHYL QGRSSIAGLL LKATNEKLSV YAALQRQLLS
PGTALILLEA QAASGFLLDP VRNRRLTVNE AVKEGVVGPE LHHKLLSAER AVTGYKDPYT
GQQISLFQAM QKGLIVREHG IRLLEAQIAT GGVIDPVHSH RVPVDVAYRR GYFDEEMNRV
LADPSDDTKG FFDPNTHENL TYLQLLERCV EDPETGLCLL PLTDKAAKGG ELVYTDSEAR
DVFEKATVSA PFGKFQGKTV TIWEIINSEY FTAEQRRDLL RQFRTGRITV EKIIKIIITV
VEEQEQKGRL CFEGLRSLVP AAELLESRVI DRELYQQLQR GERSVRDVAE VDTVRRALRG
ANVIAGVWLE EAGQKLSIYN ALKKDLLPSD MAVALLEAQA GTGHIIDPAT SARLTVDEAV
RAGLVGPEFH EKLLSAEKAV TGYRDPYTGQ SVSLFQALKK GLIPREQGLR LLDAQLSTGG
IVDPSKSHRV PLDVACARGC LDEETSRALS APRADAKAYS DPSTGEPATY GELQQRCRPD
QLTGLSLLPL SEKAARARQE ELYSELQARE TFEKTPVEVP VGGFKGRTVT VWELISSEYF
TAEQRQELLR QFRTGKVTVE KVIKILITIV EEVETLRQER LSFSGLRAPV PASELLASGV
LSRAQFEQLK DGKTTVKDLS ELGSVRTLLQ GSGCLAGIYL EDTKEKVSIY EAMRRGLLRA
TTAALLLEAQ AATGFLVDPV RNQRLYVHEA VKAGVVGPEL HEQLLSAEKA VTGYRDPYSG
STISLFQAMQ KGLVLRQHGI RLLEAQIATG GIIDPVHSHR VPVDVAYQRG YFSEEMNRVL
ADPSDDTKGF FDPNTHENLT YRQLLERCVE DPETGLRLLP LKGAEKAEVV ETTQVYTEEE
TRRAFEETQI DIPGGGSHGG STMSLWEVMQ SDLIPEEQRA QLMADFQAGR VTKERMIIII
IEIIEKTEII RQQGLASYDY VRRRLTAEDL FEARIISLET YNLLREGTRS LREALEAESA
WCYLYGTGSV AGVYLPGSRQ TLSIYQALKK GLLSAEVARL LLEAQAATGF LLDPVKGERL
TVDEAVRKGL VGPELHDRLL SAERAVTGYR DPYTEQTISL FQAMKKELIP TEEALRLLDA
QLATGGIVDP RLGFHLPLEV AYQRGYLNKD THDQLSEPSE VRSYVDPSTD ERLSYTQLLR
RCRRDDGTGQ LLLPLSDARK LTFRGLRKQI TMEELVRSQV MDEATALQLR EGLTSIEEVT
KNLQKFLEGT SCIAGVFVDA TKERLSVYQA MKKGIIRPGT AFELLEAQAA TGYVIDPIKG
LKLTVEEAVR MGIVGPEFKD KLLSAERAVT GYKDPYSGKL ISLFQAMKKG LILKDHGIRL
LEAQIATGGI IDPEESHRLP VEVAYKRGLF DEEMNEILTD PSDDTKGFFD PNTEENLTYL
QLMERCITDP QTGLCLLPLK EKKRERKTSS KSSVRKRRVV IVDPETGKEM SVYEAYRKGL
IDHQTYLELS EQECEWEEIT ISSSDGVVKS MIIDRRSGRQ YDIDDAIAKN LIDRSALDQY
RAGTLSITEF ADMLSGNAGG FRSRSSSVGS SSSYPISPAV SRTQLASWSD PTEETGPVAG
ILDTETLEKV SITEAMHRNL VDNITGQRLL EAQACTGGII DPSTGERFPV TDAVNKGLVD
KIMVDRINLA QKAFCGFEDP RTKTKMSAAQ ALKKGWLYYE AGQRFLEVQY LTGGLIEPDT
PGRVPLDEAL QRGTVDARTA QKLRDVGAYS KYLTCPKTKL KISYKDALDR SMVEEGTGLR
LLEAAAQSTK GYYSPYSVSG SGSTAGSRTG SRTGSRAGSR RGSFDATGSG FSMTFSSSSY
SSSGYGRRYA SGSSASLGGP ESAVA*

speed

1.17 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999727159578415 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:144996029A>GN/A show variant in all transcripts IGV

HGNC symbol

PLEC

Ensembl transcript ID

ENST00000356346

Genbank transcript ID

NM_201378

UniProt peptide

Q15149

alteration type

single base exchange

alteration region

CDS

DNA changes

c.7918T>C
cDNA.7975T>C
g.54874T>C

AA changes

S2640P Score: 74 explain score(s)

position(s) of altered AA
if AA alteration in CDS

2640

frameshift

known variant

Reference ID: rs7833924

database	homozygous (G/G)	heterozygous	allele carriers
1000G	736	865	1601
ExAC	10289	12189	22478

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.03	0.983
	0.621	0.98
(flanking)	0.034	0.978

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	54876	wt: 0.7442 / mu: 0.7665 (marginal change - not scored)	wt: GTGTCAGCTCAGAGG mu: GTGCCAGCTCAGAGG	GTCA\|gctc
Donor marginally increased	54865	wt: 0.9267 / mu: 0.9722 (marginal change - not scored)	wt: TGCGGCGGAAGGTGT mu: TGCGGCGGAAGGTGC	CGGC\|ggaa
Donor gained	54878	0.51	mu: GCCAGCTCAGAGGCT	CAGC\|tcag

distance from splice site

535

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

2640

mutated

not conserved

2640

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000000388

2791

Fcatus

not conserved

ENSFCAG00000001046

3113

Mmusculus

not conserved

ENSMUSG00000022565

2799

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000003715

2794

Drerio

not conserved

ENSDARG00000021987

2673

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1469	2756	COILED	Potential.	lost
1471	2755	REGION	Central fibrous rod domain.	lost
2755	2755	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2756	4684	REGION	Globular 2.	might get lost (downstream of altered splice site)
2814	2814	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2826	2863	REPEAT	Plectin 1.	might get lost (downstream of altered splice site)
2841	2841	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2864	2901	REPEAT	Plectin 2.	might get lost (downstream of altered splice site)
2902	2939	REPEAT	Plectin 3.	might get lost (downstream of altered splice site)
2940	2977	REPEAT	Plectin 4.	might get lost (downstream of altered splice site)
2981	3015	REPEAT	Plectin 5.	might get lost (downstream of altered splice site)
3027	3027	CONFLICT	K -> E (in Ref. 2; AAB05427/AAB05428).	might get lost (downstream of altered splice site)
3033	3033	MOD_RES	Phosphotyrosine (By similarity).	might get lost (downstream of altered splice site)
3091	3091	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
3116	3153	REPEAT	Plectin 6.	might get lost (downstream of altered splice site)
3154	3191	REPEAT	Plectin 7.	might get lost (downstream of altered splice site)
3192	3229	REPEAT	Plectin 8.	might get lost (downstream of altered splice site)
3230	3267	REPEAT	Plectin 9.	might get lost (downstream of altered splice site)
3268	3305	REPEAT	Plectin 10.	might get lost (downstream of altered splice site)
3306	3343	REPEAT	Plectin 11.	might get lost (downstream of altered splice site)
3310	3310	CONFLICT	A -> E (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3361	3361	CONFLICT	L -> F (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3362	3362	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
3408	3408	CONFLICT	L -> F (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3420	3420	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
3447	3447	CONFLICT	A -> S (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3485	3522	REPEAT	Plectin 12.	might get lost (downstream of altered splice site)
3523	3560	REPEAT	Plectin 13.	might get lost (downstream of altered splice site)
3531	3531	CONFLICT	A -> G (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3561	3598	REPEAT	Plectin 14.	might get lost (downstream of altered splice site)
3580	3580	CONFLICT	S -> R (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3589	3589	CONFLICT	Q -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3596	3596	CONFLICT	Q -> E (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3599	3636	REPEAT	Plectin 15.	might get lost (downstream of altered splice site)
3616	3616	CONFLICT	H -> N (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3640	3674	REPEAT	Plectin 16.	might get lost (downstream of altered splice site)
3686	3686	CONFLICT	A -> V (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3786	3786	CONFLICT	A -> G (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3808	3808	CONFLICT	R -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3816	3816	CONFLICT	A -> G (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3820	3857	REPEAT	Plectin 17.	might get lost (downstream of altered splice site)
3821	3821	CONFLICT	C -> F (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3858	3895	REPEAT	Plectin 18.	might get lost (downstream of altered splice site)
3896	3933	REPEAT	Plectin 19.	might get lost (downstream of altered splice site)
3915	3915	CONFLICT	Q -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3934	3971	REPEAT	Plectin 20.	might get lost (downstream of altered splice site)
3975	4008	REPEAT	Plectin 21.	might get lost (downstream of altered splice site)
3999	3999	CONFLICT	R -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
4007	4007	CONFLICT	T -> S (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
4030	4030	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4063	4100	REPEAT	Plectin 22.	might get lost (downstream of altered splice site)
4101	4138	REPEAT	Plectin 23.	might get lost (downstream of altered splice site)
4139	4176	REPEAT	Plectin 24.	might get lost (downstream of altered splice site)
4155	4155	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4177	4214	REPEAT	Plectin 25.	might get lost (downstream of altered splice site)
4218	4252	REPEAT	Plectin 26.	might get lost (downstream of altered splice site)
4250	4300	REGION	Binding to intermediate filaments (By similarity).	might get lost (downstream of altered splice site)
4265	4305	REPEAT	Plectin 27.	might get lost (downstream of altered splice site)
4319	4356	REPEAT	Plectin 28.	might get lost (downstream of altered splice site)
4382	4382	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4384	4384	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4385	4385	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4386	4386	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4389	4389	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4390	4390	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4391	4391	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
4392	4392	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4393	4393	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4396	4396	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4400	4400	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4402	4402	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4408	4445	REPEAT	Plectin 29.	might get lost (downstream of altered splice site)
4411	4411	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4446	4483	REPEAT	Plectin 30.	might get lost (downstream of altered splice site)
4467	4467	CONFLICT	F -> L (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
4484	4521	REPEAT	Plectin 31.	might get lost (downstream of altered splice site)
4522	4559	REPEAT	Plectin 32.	might get lost (downstream of altered splice site)
4539	4539	MOD_RES	Phosphothreonine; by CDK1 (By similarity).	might get lost (downstream of altered splice site)
4560	4597	REPEAT	Plectin 33.	might get lost (downstream of altered splice site)
4611	4611	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4613	4613	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4615	4615	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4618	4618	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4620	4620	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4622	4622	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4623	4623	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4625	4640	REGION	4 X 4 AA tandem repeats of G-S-R-X.	might get lost (downstream of altered splice site)
4626	4626	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4628	4628	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4642	4642	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4658	4658	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4675	4675	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

13602 / 13602

position (AA) of stopcodon in wt / mu AA sequence

4534 / 4534

position of stopcodon in wt / mu cDNA

13659 / 13659

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

58 / 58

chromosome

strand

-1

last intron/exon boundary

7441

theoretical NMD boundary in CDS

7333

length of CDS

13602

coding sequence (CDS) position

7918

cDNA position
(for ins/del: last normal base / first normal base)

7975

gDNA position
(for ins/del: last normal base / first normal base)

54874

chromosomal position
(for ins/del: last normal base / first normal base)

144996029

original gDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGTCAGCTCAGAGGCTGCAGGAG

altered gDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGCCAGCTCAGAGGCTGCAGGAG

original cDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGTCAGCTCAGAGGCTGCAGGAG

altered cDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGCCAGCTCAGAGGCTGCAGGAG

wildtype AA sequence

MAGPLPDEQD FIQAYEEVRE KYKDERDRVQ KKTFTKWVNK HLIKAQRHIS DLYEDLRDGH
NLISLLEVLS GDSLPREKGR MRFHKLQNVQ IALDYLRHRQ VKLVNIRNDD IADGNPKLTL
GLIWTIILHF QISDIQVSGQ SEDMTAKEKL LLWSQRMVEG YQGLRCDNFT SSWRDGRLFN
AIIHRHKPLL IDMNKVYRQT NLENLDQAFS VAERDLGVTR LLDPEDVDVP QPDEKSIITY
VSSLYDAMPR VPDVQDGVRA NELQLRWQEY RELVLLLLQW MRHHTAAFEE RRFPSSFEEI
EILWSQFLKF KEMELPAKEA DKNRSKGIYQ SLEGAVQAGQ LKVPPGYHPL DVEKEWGKLH
VAILEREKQL RSEFERLECL QRIVTKLQME AGLCEEQLNQ ADALLQSDVR LLAAGKVPQR
AGEVERDLDK ADSMIRLLFN DVQTLKDGRH PQGEQMYRRV YRLHERLVAI RTEYNLRLKA
GVAAPATQVA QVTLQSVQRR PELEDSTLRY LQDLLAWVEE NQHRVDGAEW GVDLPSVEAQ
LGSHRGLHQS IEEFRAKIER ARSDEGQLSP ATRGAYRDCL GRLDLQYAKL LNSSKARLRS
LESLHSFVAA ATKELMWLNE KEEEEVGFDW SDRNTNMTAK KESYSALMRE LELKEKKIKE
LQNAGDRLLR EDHPARPTVE SFQAALQTQW SWMLQLCCCI EAHLKENAAY FQFFSDVREA
EGQLQKLQEA LRRKYSCDRS ATVTRLEDLL QDAQDEKEQL NEYKGHLSGL AKRAKAVVQL
KPRHPAHPMR GRLPLLAVCD YKQVEVTVHK GDECQLVGPA QPSHWKVLSS SGSEAAVPSV
CFLVPPPNQE AQEAVTRLEA QHQALVTLWH QLHVDMKSLL AWQSLRRDVQ LIRSWSLATF
RTLKPEEQRQ ALHSLELHYQ AFLRDSQDAG GFGPEDRLMA EREYGSCSHH YQQLLQSLEQ
GAQEESRCQR CISELKDIRL QLEACETRTV HRLRLPLDKE PARECAQRIA EQQKAQAEVE
GLGKGVARLS AEAEKVLALP EPSPAAPTLR SELELTLGKL EQVRSLSAIY LEKLKTISLV
IRGTQGAEEV LRAHEEQLKE AQAVPATLPE LEATKASLKK LRAQAEAQQP TFDALRDELR
GAQEVGERLQ QRHGERDVEV ERWRERVAQL LERWQAVLAQ TDVRQRELEQ LGRQLRYYRE
SADPLGAWLQ DARRRQEQIQ AMPLADSQAV REQLRQEQAL LEEIERHGEK VEECQRFAKQ
YINAIKDYEL QLVTYKAQLE PVASPAKKPK VQSGSESVIQ EYVDLRTHYS ELTTLTSQYI
KFISETLRRM EEEERLAEQQ RAEERERLAE VEAALEKQRQ LAEAHAQAKA QAEREAKELQ
QRMQEEVVRR EEAAVDAQQQ KRSIQEELQQ LRQSSEAEIQ AKARQAEAAE RSRLRIEEEI
RVVRLQLEAT ERQRGGAEGE LQALRARAEE AEAQKRQAQE EAERLRRQVQ DESQRKRQAE
VELASRVKAE AEAAREKQRA LQALEELRLQ AEEAERRLRQ AEVERARQVQ VALETAQRSA
EAELQSKRAS FAEKTAQLER SLQEEHVAVA QLREEAERRA QQQAEAERAR EEAERELERW
QLKANEALRL RLQAEEVAQQ KSLAQAEAEK QKEEAEREAR RRGKAEEQAV RQRELAEQEL
EKQRQLAEGT AQQRLAAEQE LIRLRAETEQ GEQQRQLLEE ELARLQREAA AATQKRQELE
AELAKVRAEM EVLLASKARA EEESRSTSEK SKQRLEAEAG RFRELAEEAA RLRALAEEAK
RQRQLAEEDA ARQRAEAERV LAEKLAAIGE ATRLKTEAEI ALKEKEAENE RLRRLAEDEA
FQRRRLEEQA AQHKADIEER LAQLRKASDS ELERQKGLVE DTLRQRRQVE EEILALKASF
EKAAAGKAEL ELELGRIRSN AEDTLRSKEQ AELEAARQRQ LAAEEERRRR EAEERVQKSL
AAEEEAARQR KAALEEVERL KAKVEEARRL RERAEQESAR QLQLAQEAAQ KRLQAEEKAH
AFAVQQKEQE LQQTLQQEQS VLDQLRGEAE AARRAAEEAE EARVQAEREA AQSRRQVEEA
ERLKQSAEEQ AQARAQAQAA AEKLRKEAEQ EAARRAQAEQ AALRQKQAAD AEMEKHKKFA
EQTLRQKAQV EQELTTLRLQ LEETDHQKNL LDEELQRLKA EATEAARQRS QVEEELFSVR
VQMEELSKLK ARIEAENRAL ILRDKDNTQR FLQEEAEKMK QVAEEAARLS VAAQEAARLR
QLAEEDLAQQ RALAEKMLKE KMQAVQEATR LKAEAELLQQ QKELAQEQAR RLQEDKEQMA
QQLAEETQGF QRTLEAERQR QLEMSAEAER LKLRVAEMSR AQARAEEDAQ RFRKQAEEIG
EKLHRTELAT QEKVTLVQTL EIQRQQSDHD AERLREAIAE LEREKEKLQQ EAKLLQLKSE
EMQTVQQEQL LQETQALQQS FLSEKDSLLQ RERFIEQEKA KLEQLFQDEV AKAQQLREEQ
QRQQQQMEQE RQRLVASMEE ARRRQHEAEE GVRRKQEELQ QLEQQRRQQE ELLAEENQRL
REQLQLLEEQ HRAALAHSEE VTASQVAATK TLPNGRDALD GPAAEAEPEH SFDGLRRKVS
AQRLQEAGIL SAEELQRLAQ GHTTVDELAR REDVRHYLQG RSSIAGLLLK ATNEKLSVYA
ALQRQLLSPG TALILLEAQA ASGFLLDPVR NRRLTVNEAV KEGVVGPELH HKLLSAERAV
TGYKDPYTGQ QISLFQAMQK GLIVREHGIR LLEAQIATGG VIDPVHSHRV PVDVAYRRGY
FDEEMNRVLA DPSDDTKGFF DPNTHENLTY LQLLERCVED PETGLCLLPL TDKAAKGGEL
VYTDSEARDV FEKATVSAPF GKFQGKTVTI WEIINSEYFT AEQRRDLLRQ FRTGRITVEK
IIKIIITVVE EQEQKGRLCF EGLRSLVPAA ELLESRVIDR ELYQQLQRGE RSVRDVAEVD
TVRRALRGAN VIAGVWLEEA GQKLSIYNAL KKDLLPSDMA VALLEAQAGT GHIIDPATSA
RLTVDEAVRA GLVGPEFHEK LLSAEKAVTG YRDPYTGQSV SLFQALKKGL IPREQGLRLL
DAQLSTGGIV DPSKSHRVPL DVACARGCLD EETSRALSAP RADAKAYSDP STGEPATYGE
LQQRCRPDQL TGLSLLPLSE KAARARQEEL YSELQARETF EKTPVEVPVG GFKGRTVTVW
ELISSEYFTA EQRQELLRQF RTGKVTVEKV IKILITIVEE VETLRQERLS FSGLRAPVPA
SELLASGVLS RAQFEQLKDG KTTVKDLSEL GSVRTLLQGS GCLAGIYLED TKEKVSIYEA
MRRGLLRATT AALLLEAQAA TGFLVDPVRN QRLYVHEAVK AGVVGPELHE QLLSAEKAVT
GYRDPYSGST ISLFQAMQKG LVLRQHGIRL LEAQIATGGI IDPVHSHRVP VDVAYQRGYF
SEEMNRVLAD PSDDTKGFFD PNTHENLTYR QLLERCVEDP ETGLRLLPLK GAEKAEVVET
TQVYTEEETR RAFEETQIDI PGGGSHGGST MSLWEVMQSD LIPEEQRAQL MADFQAGRVT
KERMIIIIIE IIEKTEIIRQ QGLASYDYVR RRLTAEDLFE ARIISLETYN LLREGTRSLR
EALEAESAWC YLYGTGSVAG VYLPGSRQTL SIYQALKKGL LSAEVARLLL EAQAATGFLL
DPVKGERLTV DEAVRKGLVG PELHDRLLSA ERAVTGYRDP YTEQTISLFQ AMKKELIPTE
EALRLLDAQL ATGGIVDPRL GFHLPLEVAY QRGYLNKDTH DQLSEPSEVR SYVDPSTDER
LSYTQLLRRC RRDDGTGQLL LPLSDARKLT FRGLRKQITM EELVRSQVMD EATALQLREG
LTSIEEVTKN LQKFLEGTSC IAGVFVDATK ERLSVYQAMK KGIIRPGTAF ELLEAQAATG
YVIDPIKGLK LTVEEAVRMG IVGPEFKDKL LSAERAVTGY KDPYSGKLIS LFQAMKKGLI
LKDHGIRLLE AQIATGGIID PEESHRLPVE VAYKRGLFDE EMNEILTDPS DDTKGFFDPN
TEENLTYLQL MERCITDPQT GLCLLPLKEK KRERKTSSKS SVRKRRVVIV DPETGKEMSV
YEAYRKGLID HQTYLELSEQ ECEWEEITIS SSDGVVKSMI IDRRSGRQYD IDDAIAKNLI
DRSALDQYRA GTLSITEFAD MLSGNAGGFR SRSSSVGSSS SYPISPAVSR TQLASWSDPT
EETGPVAGIL DTETLEKVSI TEAMHRNLVD NITGQRLLEA QACTGGIIDP STGERFPVTD
AVNKGLVDKI MVDRINLAQK AFCGFEDPRT KTKMSAAQAL KKGWLYYEAG QRFLEVQYLT
GGLIEPDTPG RVPLDEALQR GTVDARTAQK LRDVGAYSKY LTCPKTKLKI SYKDALDRSM
VEEGTGLRLL EAAAQSTKGY YSPYSVSGSG STAGSRTGSR TGSRAGSRRG SFDATGSGFS
MTFSSSSYSS SGYGRRYASG SSASLGGPES AVA*

mutated AA sequence

MAGPLPDEQD FIQAYEEVRE KYKDERDRVQ KKTFTKWVNK HLIKAQRHIS DLYEDLRDGH
NLISLLEVLS GDSLPREKGR MRFHKLQNVQ IALDYLRHRQ VKLVNIRNDD IADGNPKLTL
GLIWTIILHF QISDIQVSGQ SEDMTAKEKL LLWSQRMVEG YQGLRCDNFT SSWRDGRLFN
AIIHRHKPLL IDMNKVYRQT NLENLDQAFS VAERDLGVTR LLDPEDVDVP QPDEKSIITY
VSSLYDAMPR VPDVQDGVRA NELQLRWQEY RELVLLLLQW MRHHTAAFEE RRFPSSFEEI
EILWSQFLKF KEMELPAKEA DKNRSKGIYQ SLEGAVQAGQ LKVPPGYHPL DVEKEWGKLH
VAILEREKQL RSEFERLECL QRIVTKLQME AGLCEEQLNQ ADALLQSDVR LLAAGKVPQR
AGEVERDLDK ADSMIRLLFN DVQTLKDGRH PQGEQMYRRV YRLHERLVAI RTEYNLRLKA
GVAAPATQVA QVTLQSVQRR PELEDSTLRY LQDLLAWVEE NQHRVDGAEW GVDLPSVEAQ
LGSHRGLHQS IEEFRAKIER ARSDEGQLSP ATRGAYRDCL GRLDLQYAKL LNSSKARLRS
LESLHSFVAA ATKELMWLNE KEEEEVGFDW SDRNTNMTAK KESYSALMRE LELKEKKIKE
LQNAGDRLLR EDHPARPTVE SFQAALQTQW SWMLQLCCCI EAHLKENAAY FQFFSDVREA
EGQLQKLQEA LRRKYSCDRS ATVTRLEDLL QDAQDEKEQL NEYKGHLSGL AKRAKAVVQL
KPRHPAHPMR GRLPLLAVCD YKQVEVTVHK GDECQLVGPA QPSHWKVLSS SGSEAAVPSV
CFLVPPPNQE AQEAVTRLEA QHQALVTLWH QLHVDMKSLL AWQSLRRDVQ LIRSWSLATF
RTLKPEEQRQ ALHSLELHYQ AFLRDSQDAG GFGPEDRLMA EREYGSCSHH YQQLLQSLEQ
GAQEESRCQR CISELKDIRL QLEACETRTV HRLRLPLDKE PARECAQRIA EQQKAQAEVE
GLGKGVARLS AEAEKVLALP EPSPAAPTLR SELELTLGKL EQVRSLSAIY LEKLKTISLV
IRGTQGAEEV LRAHEEQLKE AQAVPATLPE LEATKASLKK LRAQAEAQQP TFDALRDELR
GAQEVGERLQ QRHGERDVEV ERWRERVAQL LERWQAVLAQ TDVRQRELEQ LGRQLRYYRE
SADPLGAWLQ DARRRQEQIQ AMPLADSQAV REQLRQEQAL LEEIERHGEK VEECQRFAKQ
YINAIKDYEL QLVTYKAQLE PVASPAKKPK VQSGSESVIQ EYVDLRTHYS ELTTLTSQYI
KFISETLRRM EEEERLAEQQ RAEERERLAE VEAALEKQRQ LAEAHAQAKA QAEREAKELQ
QRMQEEVVRR EEAAVDAQQQ KRSIQEELQQ LRQSSEAEIQ AKARQAEAAE RSRLRIEEEI
RVVRLQLEAT ERQRGGAEGE LQALRARAEE AEAQKRQAQE EAERLRRQVQ DESQRKRQAE
VELASRVKAE AEAAREKQRA LQALEELRLQ AEEAERRLRQ AEVERARQVQ VALETAQRSA
EAELQSKRAS FAEKTAQLER SLQEEHVAVA QLREEAERRA QQQAEAERAR EEAERELERW
QLKANEALRL RLQAEEVAQQ KSLAQAEAEK QKEEAEREAR RRGKAEEQAV RQRELAEQEL
EKQRQLAEGT AQQRLAAEQE LIRLRAETEQ GEQQRQLLEE ELARLQREAA AATQKRQELE
AELAKVRAEM EVLLASKARA EEESRSTSEK SKQRLEAEAG RFRELAEEAA RLRALAEEAK
RQRQLAEEDA ARQRAEAERV LAEKLAAIGE ATRLKTEAEI ALKEKEAENE RLRRLAEDEA
FQRRRLEEQA AQHKADIEER LAQLRKASDS ELERQKGLVE DTLRQRRQVE EEILALKASF
EKAAAGKAEL ELELGRIRSN AEDTLRSKEQ AELEAARQRQ LAAEEERRRR EAEERVQKSL
AAEEEAARQR KAALEEVERL KAKVEEARRL RERAEQESAR QLQLAQEAAQ KRLQAEEKAH
AFAVQQKEQE LQQTLQQEQS VLDQLRGEAE AARRAAEEAE EARVQAEREA AQSRRQVEEA
ERLKQSAEEQ AQARAQAQAA AEKLRKEAEQ EAARRAQAEQ AALRQKQAAD AEMEKHKKFA
EQTLRQKAQV EQELTTLRLQ LEETDHQKNL LDEELQRLKA EATEAARQRS QVEEELFSVR
VQMEELSKLK ARIEAENRAL ILRDKDNTQR FLQEEAEKMK QVAEEAARLS VAAQEAARLR
QLAEEDLAQQ RALAEKMLKE KMQAVQEATR LKAEAELLQQ QKELAQEQAR RLQEDKEQMA
QQLAEETQGF QRTLEAERQR QLEMSAEAER LKLRVAEMSR AQARAEEDAQ RFRKQAEEIG
EKLHRTELAT QEKVTLVQTL EIQRQQSDHD AERLREAIAE LEREKEKLQQ EAKLLQLKSE
EMQTVQQEQL LQETQALQQS FLSEKDSLLQ RERFIEQEKA KLEQLFQDEV AKAQQLREEQ
QRQQQQMEQE RQRLVASMEE ARRRQHEAEE GVRRKQEELQ QLEQQRRQQE ELLAEENQRL
REQLQLLEEQ HRAALAHSEE VTASQVAATK TLPNGRDALD GPAAEAEPEH SFDGLRRKVP
AQRLQEAGIL SAEELQRLAQ GHTTVDELAR REDVRHYLQG RSSIAGLLLK ATNEKLSVYA
ALQRQLLSPG TALILLEAQA ASGFLLDPVR NRRLTVNEAV KEGVVGPELH HKLLSAERAV
TGYKDPYTGQ QISLFQAMQK GLIVREHGIR LLEAQIATGG VIDPVHSHRV PVDVAYRRGY
FDEEMNRVLA DPSDDTKGFF DPNTHENLTY LQLLERCVED PETGLCLLPL TDKAAKGGEL
VYTDSEARDV FEKATVSAPF GKFQGKTVTI WEIINSEYFT AEQRRDLLRQ FRTGRITVEK
IIKIIITVVE EQEQKGRLCF EGLRSLVPAA ELLESRVIDR ELYQQLQRGE RSVRDVAEVD
TVRRALRGAN VIAGVWLEEA GQKLSIYNAL KKDLLPSDMA VALLEAQAGT GHIIDPATSA
RLTVDEAVRA GLVGPEFHEK LLSAEKAVTG YRDPYTGQSV SLFQALKKGL IPREQGLRLL
DAQLSTGGIV DPSKSHRVPL DVACARGCLD EETSRALSAP RADAKAYSDP STGEPATYGE
LQQRCRPDQL TGLSLLPLSE KAARARQEEL YSELQARETF EKTPVEVPVG GFKGRTVTVW
ELISSEYFTA EQRQELLRQF RTGKVTVEKV IKILITIVEE VETLRQERLS FSGLRAPVPA
SELLASGVLS RAQFEQLKDG KTTVKDLSEL GSVRTLLQGS GCLAGIYLED TKEKVSIYEA
MRRGLLRATT AALLLEAQAA TGFLVDPVRN QRLYVHEAVK AGVVGPELHE QLLSAEKAVT
GYRDPYSGST ISLFQAMQKG LVLRQHGIRL LEAQIATGGI IDPVHSHRVP VDVAYQRGYF
SEEMNRVLAD PSDDTKGFFD PNTHENLTYR QLLERCVEDP ETGLRLLPLK GAEKAEVVET
TQVYTEEETR RAFEETQIDI PGGGSHGGST MSLWEVMQSD LIPEEQRAQL MADFQAGRVT
KERMIIIIIE IIEKTEIIRQ QGLASYDYVR RRLTAEDLFE ARIISLETYN LLREGTRSLR
EALEAESAWC YLYGTGSVAG VYLPGSRQTL SIYQALKKGL LSAEVARLLL EAQAATGFLL
DPVKGERLTV DEAVRKGLVG PELHDRLLSA ERAVTGYRDP YTEQTISLFQ AMKKELIPTE
EALRLLDAQL ATGGIVDPRL GFHLPLEVAY QRGYLNKDTH DQLSEPSEVR SYVDPSTDER
LSYTQLLRRC RRDDGTGQLL LPLSDARKLT FRGLRKQITM EELVRSQVMD EATALQLREG
LTSIEEVTKN LQKFLEGTSC IAGVFVDATK ERLSVYQAMK KGIIRPGTAF ELLEAQAATG
YVIDPIKGLK LTVEEAVRMG IVGPEFKDKL LSAERAVTGY KDPYSGKLIS LFQAMKKGLI
LKDHGIRLLE AQIATGGIID PEESHRLPVE VAYKRGLFDE EMNEILTDPS DDTKGFFDPN
TEENLTYLQL MERCITDPQT GLCLLPLKEK KRERKTSSKS SVRKRRVVIV DPETGKEMSV
YEAYRKGLID HQTYLELSEQ ECEWEEITIS SSDGVVKSMI IDRRSGRQYD IDDAIAKNLI
DRSALDQYRA GTLSITEFAD MLSGNAGGFR SRSSSVGSSS SYPISPAVSR TQLASWSDPT
EETGPVAGIL DTETLEKVSI TEAMHRNLVD NITGQRLLEA QACTGGIIDP STGERFPVTD
AVNKGLVDKI MVDRINLAQK AFCGFEDPRT KTKMSAAQAL KKGWLYYEAG QRFLEVQYLT
GGLIEPDTPG RVPLDEALQR GTVDARTAQK LRDVGAYSKY LTCPKTKLKI SYKDALDRSM
VEEGTGLRLL EAAAQSTKGY YSPYSVSGSG STAGSRTGSR TGSRAGSRRG SFDATGSGFS
MTFSSSSYSS SGYGRRYASG SSASLGGPES AVA*

speed

1.01 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999727159578415 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:144996029A>GN/A show variant in all transcripts IGV

HGNC symbol

PLEC

Ensembl transcript ID

ENST00000436759

Genbank transcript ID

NM_000445

UniProt peptide

Q15149

alteration type

single base exchange

alteration region

CDS

DNA changes

c.8041T>C
cDNA.8079T>C
g.54874T>C

AA changes

S2681P Score: 74 explain score(s)

position(s) of altered AA
if AA alteration in CDS

2681

frameshift

known variant

Reference ID: rs7833924

database	homozygous (G/G)	heterozygous	allele carriers
1000G	736	865	1601
ExAC	10289	12189	22478

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.03	0.983
	0.621	0.98
(flanking)	0.034	0.978

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	54876	wt: 0.7442 / mu: 0.7665 (marginal change - not scored)	wt: GTGTCAGCTCAGAGG mu: GTGCCAGCTCAGAGG	GTCA\|gctc
Donor marginally increased	54865	wt: 0.9267 / mu: 0.9722 (marginal change - not scored)	wt: TGCGGCGGAAGGTGT mu: TGCGGCGGAAGGTGC	CGGC\|ggaa
Donor gained	54878	0.51	mu: GCCAGCTCAGAGGCT	CAGC\|tcag

distance from splice site

535

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

2681

mutated

not conserved

2681

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000000388

2791

Fcatus

not conserved

ENSFCAG00000001046

3113

Mmusculus

not conserved

ENSMUSG00000022565

2799

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000003715

2794

Drerio

not conserved

ENSDARG00000021987

2668

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1469	2756	COILED	Potential.	lost
1471	2755	REGION	Central fibrous rod domain.	lost
2755	2755	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2756	4684	REGION	Globular 2.	might get lost (downstream of altered splice site)
2814	2814	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2826	2863	REPEAT	Plectin 1.	might get lost (downstream of altered splice site)
2841	2841	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2864	2901	REPEAT	Plectin 2.	might get lost (downstream of altered splice site)
2902	2939	REPEAT	Plectin 3.	might get lost (downstream of altered splice site)
2940	2977	REPEAT	Plectin 4.	might get lost (downstream of altered splice site)
2981	3015	REPEAT	Plectin 5.	might get lost (downstream of altered splice site)
3027	3027	CONFLICT	K -> E (in Ref. 2; AAB05427/AAB05428).	might get lost (downstream of altered splice site)
3033	3033	MOD_RES	Phosphotyrosine (By similarity).	might get lost (downstream of altered splice site)
3091	3091	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
3116	3153	REPEAT	Plectin 6.	might get lost (downstream of altered splice site)
3154	3191	REPEAT	Plectin 7.	might get lost (downstream of altered splice site)
3192	3229	REPEAT	Plectin 8.	might get lost (downstream of altered splice site)
3230	3267	REPEAT	Plectin 9.	might get lost (downstream of altered splice site)
3268	3305	REPEAT	Plectin 10.	might get lost (downstream of altered splice site)
3306	3343	REPEAT	Plectin 11.	might get lost (downstream of altered splice site)
3310	3310	CONFLICT	A -> E (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3361	3361	CONFLICT	L -> F (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3362	3362	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
3408	3408	CONFLICT	L -> F (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3420	3420	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
3447	3447	CONFLICT	A -> S (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3485	3522	REPEAT	Plectin 12.	might get lost (downstream of altered splice site)
3523	3560	REPEAT	Plectin 13.	might get lost (downstream of altered splice site)
3531	3531	CONFLICT	A -> G (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3561	3598	REPEAT	Plectin 14.	might get lost (downstream of altered splice site)
3580	3580	CONFLICT	S -> R (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3589	3589	CONFLICT	Q -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3596	3596	CONFLICT	Q -> E (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3599	3636	REPEAT	Plectin 15.	might get lost (downstream of altered splice site)
3616	3616	CONFLICT	H -> N (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3640	3674	REPEAT	Plectin 16.	might get lost (downstream of altered splice site)
3686	3686	CONFLICT	A -> V (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3786	3786	CONFLICT	A -> G (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3808	3808	CONFLICT	R -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3816	3816	CONFLICT	A -> G (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3820	3857	REPEAT	Plectin 17.	might get lost (downstream of altered splice site)
3821	3821	CONFLICT	C -> F (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3858	3895	REPEAT	Plectin 18.	might get lost (downstream of altered splice site)
3896	3933	REPEAT	Plectin 19.	might get lost (downstream of altered splice site)
3915	3915	CONFLICT	Q -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3934	3971	REPEAT	Plectin 20.	might get lost (downstream of altered splice site)
3975	4008	REPEAT	Plectin 21.	might get lost (downstream of altered splice site)
3999	3999	CONFLICT	R -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
4007	4007	CONFLICT	T -> S (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
4030	4030	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4063	4100	REPEAT	Plectin 22.	might get lost (downstream of altered splice site)
4101	4138	REPEAT	Plectin 23.	might get lost (downstream of altered splice site)
4139	4176	REPEAT	Plectin 24.	might get lost (downstream of altered splice site)
4155	4155	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4177	4214	REPEAT	Plectin 25.	might get lost (downstream of altered splice site)
4218	4252	REPEAT	Plectin 26.	might get lost (downstream of altered splice site)
4250	4300	REGION	Binding to intermediate filaments (By similarity).	might get lost (downstream of altered splice site)
4265	4305	REPEAT	Plectin 27.	might get lost (downstream of altered splice site)
4319	4356	REPEAT	Plectin 28.	might get lost (downstream of altered splice site)
4382	4382	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4384	4384	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4385	4385	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4386	4386	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4389	4389	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4390	4390	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4391	4391	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
4392	4392	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4393	4393	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4396	4396	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4400	4400	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4402	4402	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4408	4445	REPEAT	Plectin 29.	might get lost (downstream of altered splice site)
4411	4411	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4446	4483	REPEAT	Plectin 30.	might get lost (downstream of altered splice site)
4467	4467	CONFLICT	F -> L (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
4484	4521	REPEAT	Plectin 31.	might get lost (downstream of altered splice site)
4522	4559	REPEAT	Plectin 32.	might get lost (downstream of altered splice site)
4539	4539	MOD_RES	Phosphothreonine; by CDK1 (By similarity).	might get lost (downstream of altered splice site)
4560	4597	REPEAT	Plectin 33.	might get lost (downstream of altered splice site)
4611	4611	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4613	4613	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4615	4615	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4618	4618	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4620	4620	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4622	4622	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4623	4623	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4625	4640	REGION	4 X 4 AA tandem repeats of G-S-R-X.	might get lost (downstream of altered splice site)
4626	4626	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4628	4628	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4642	4642	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4658	4658	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4675	4675	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

13725 / 13725

position (AA) of stopcodon in wt / mu AA sequence

4575 / 4575

position of stopcodon in wt / mu cDNA

13763 / 13763

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

39 / 39

chromosome

strand

-1

last intron/exon boundary

7545

theoretical NMD boundary in CDS

7456

length of CDS

13725

coding sequence (CDS) position

8041

cDNA position
(for ins/del: last normal base / first normal base)

8079

gDNA position
(for ins/del: last normal base / first normal base)

54874

chromosomal position
(for ins/del: last normal base / first normal base)

144996029

original gDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGTCAGCTCAGAGGCTGCAGGAG

altered gDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGCCAGCTCAGAGGCTGCAGGAG

original cDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGTCAGCTCAGAGGCTGCAGGAG

altered cDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGCCAGCTCAGAGGCTGCAGGAG

wildtype AA sequence

MSGEDAEVRA VSEDVSNGSS GSPSPGDTLP WNLGKTQRSR RSGGGAGSNG SVLDPAERAV
IRIADERDRV QKKTFTKWVN KHLIKAQRHI SDLYEDLRDG HNLISLLEVL SGDSLPREKG
RMRFHKLQNV QIALDYLRHR QVKLVNIRND DIADGNPKLT LGLIWTIILH FQISDIQVSG
QSEDMTAKEK LLLWSQRMVE GYQGLRCDNF TSSWRDGRLF NAIIHRHKPL LIDMNKVYRQ
TNLENLDQAF SVAERDLGVT RLLDPEDVDV PQPDEKSIIT YVSSLYDAMP RVPDVQDGVR
ANELQLRWQE YRELVLLLLQ WMRHHTAAFE ERRFPSSFEE IEILWSQFLK FKEMELPAKE
ADKNRSKGIY QSLEGAVQAG QLKVPPGYHP LDVEKEWGKL HVAILEREKQ LRSEFERLEC
LQRIVTKLQM EAGLCEEQLN QADALLQSDV RLLAAGKVPQ RAGEVERDLD KADSMIRLLF
NDVQTLKDGR HPQGEQMYRR VYRLHERLVA IRTEYNLRLK AGVAAPATQV AQVTLQSVQR
RPELEDSTLR YLQDLLAWVE ENQHRVDGAE WGVDLPSVEA QLGSHRGLHQ SIEEFRAKIE
RARSDEGQLS PATRGAYRDC LGRLDLQYAK LLNSSKARLR SLESLHSFVA AATKELMWLN
EKEEEEVGFD WSDRNTNMTA KKESYSALMR ELELKEKKIK ELQNAGDRLL REDHPARPTV
ESFQAALQTQ WSWMLQLCCC IEAHLKENAA YFQFFSDVRE AEGQLQKLQE ALRRKYSCDR
SATVTRLEDL LQDAQDEKEQ LNEYKGHLSG LAKRAKAVVQ LKPRHPAHPM RGRLPLLAVC
DYKQVEVTVH KGDECQLVGP AQPSHWKVLS SSGSEAAVPS VCFLVPPPNQ EAQEAVTRLE
AQHQALVTLW HQLHVDMKSL LAWQSLRRDV QLIRSWSLAT FRTLKPEEQR QALHSLELHY
QAFLRDSQDA GGFGPEDRLM AEREYGSCSH HYQQLLQSLE QGAQEESRCQ RCISELKDIR
LQLEACETRT VHRLRLPLDK EPARECAQRI AEQQKAQAEV EGLGKGVARL SAEAEKVLAL
PEPSPAAPTL RSELELTLGK LEQVRSLSAI YLEKLKTISL VIRGTQGAEE VLRAHEEQLK
EAQAVPATLP ELEATKASLK KLRAQAEAQQ PTFDALRDEL RGAQEVGERL QQRHGERDVE
VERWRERVAQ LLERWQAVLA QTDVRQRELE QLGRQLRYYR ESADPLGAWL QDARRRQEQI
QAMPLADSQA VREQLRQEQA LLEEIERHGE KVEECQRFAK QYINAIKDYE LQLVTYKAQL
EPVASPAKKP KVQSGSESVI QEYVDLRTHY SELTTLTSQY IKFISETLRR MEEEERLAEQ
QRAEERERLA EVEAALEKQR QLAEAHAQAK AQAEREAKEL QQRMQEEVVR REEAAVDAQQ
QKRSIQEELQ QLRQSSEAEI QAKARQAEAA ERSRLRIEEE IRVVRLQLEA TERQRGGAEG
ELQALRARAE EAEAQKRQAQ EEAERLRRQV QDESQRKRQA EVELASRVKA EAEAAREKQR
ALQALEELRL QAEEAERRLR QAEVERARQV QVALETAQRS AEAELQSKRA SFAEKTAQLE
RSLQEEHVAV AQLREEAERR AQQQAEAERA REEAERELER WQLKANEALR LRLQAEEVAQ
QKSLAQAEAE KQKEEAEREA RRRGKAEEQA VRQRELAEQE LEKQRQLAEG TAQQRLAAEQ
ELIRLRAETE QGEQQRQLLE EELARLQREA AAATQKRQEL EAELAKVRAE MEVLLASKAR
AEEESRSTSE KSKQRLEAEA GRFRELAEEA ARLRALAEEA KRQRQLAEED AARQRAEAER
VLAEKLAAIG EATRLKTEAE IALKEKEAEN ERLRRLAEDE AFQRRRLEEQ AAQHKADIEE
RLAQLRKASD SELERQKGLV EDTLRQRRQV EEEILALKAS FEKAAAGKAE LELELGRIRS
NAEDTLRSKE QAELEAARQR QLAAEEERRR REAEERVQKS LAAEEEAARQ RKAALEEVER
LKAKVEEARR LRERAEQESA RQLQLAQEAA QKRLQAEEKA HAFAVQQKEQ ELQQTLQQEQ
SVLDQLRGEA EAARRAAEEA EEARVQAERE AAQSRRQVEE AERLKQSAEE QAQARAQAQA
AAEKLRKEAE QEAARRAQAE QAALRQKQAA DAEMEKHKKF AEQTLRQKAQ VEQELTTLRL
QLEETDHQKN LLDEELQRLK AEATEAARQR SQVEEELFSV RVQMEELSKL KARIEAENRA
LILRDKDNTQ RFLQEEAEKM KQVAEEAARL SVAAQEAARL RQLAEEDLAQ QRALAEKMLK
EKMQAVQEAT RLKAEAELLQ QQKELAQEQA RRLQEDKEQM AQQLAEETQG FQRTLEAERQ
RQLEMSAEAE RLKLRVAEMS RAQARAEEDA QRFRKQAEEI GEKLHRTELA TQEKVTLVQT
LEIQRQQSDH DAERLREAIA ELEREKEKLQ QEAKLLQLKS EEMQTVQQEQ LLQETQALQQ
SFLSEKDSLL QRERFIEQEK AKLEQLFQDE VAKAQQLREE QQRQQQQMEQ ERQRLVASME
EARRRQHEAE EGVRRKQEEL QQLEQQRRQQ EELLAEENQR LREQLQLLEE QHRAALAHSE
EVTASQVAAT KTLPNGRDAL DGPAAEAEPE HSFDGLRRKV SAQRLQEAGI LSAEELQRLA
QGHTTVDELA RREDVRHYLQ GRSSIAGLLL KATNEKLSVY AALQRQLLSP GTALILLEAQ
AASGFLLDPV RNRRLTVNEA VKEGVVGPEL HHKLLSAERA VTGYKDPYTG QQISLFQAMQ
KGLIVREHGI RLLEAQIATG GVIDPVHSHR VPVDVAYRRG YFDEEMNRVL ADPSDDTKGF
FDPNTHENLT YLQLLERCVE DPETGLCLLP LTDKAAKGGE LVYTDSEARD VFEKATVSAP
FGKFQGKTVT IWEIINSEYF TAEQRRDLLR QFRTGRITVE KIIKIIITVV EEQEQKGRLC
FEGLRSLVPA AELLESRVID RELYQQLQRG ERSVRDVAEV DTVRRALRGA NVIAGVWLEE
AGQKLSIYNA LKKDLLPSDM AVALLEAQAG TGHIIDPATS ARLTVDEAVR AGLVGPEFHE
KLLSAEKAVT GYRDPYTGQS VSLFQALKKG LIPREQGLRL LDAQLSTGGI VDPSKSHRVP
LDVACARGCL DEETSRALSA PRADAKAYSD PSTGEPATYG ELQQRCRPDQ LTGLSLLPLS
EKAARARQEE LYSELQARET FEKTPVEVPV GGFKGRTVTV WELISSEYFT AEQRQELLRQ
FRTGKVTVEK VIKILITIVE EVETLRQERL SFSGLRAPVP ASELLASGVL SRAQFEQLKD
GKTTVKDLSE LGSVRTLLQG SGCLAGIYLE DTKEKVSIYE AMRRGLLRAT TAALLLEAQA
ATGFLVDPVR NQRLYVHEAV KAGVVGPELH EQLLSAEKAV TGYRDPYSGS TISLFQAMQK
GLVLRQHGIR LLEAQIATGG IIDPVHSHRV PVDVAYQRGY FSEEMNRVLA DPSDDTKGFF
DPNTHENLTY RQLLERCVED PETGLRLLPL KGAEKAEVVE TTQVYTEEET RRAFEETQID
IPGGGSHGGS TMSLWEVMQS DLIPEEQRAQ LMADFQAGRV TKERMIIIII EIIEKTEIIR
QQGLASYDYV RRRLTAEDLF EARIISLETY NLLREGTRSL REALEAESAW CYLYGTGSVA
GVYLPGSRQT LSIYQALKKG LLSAEVARLL LEAQAATGFL LDPVKGERLT VDEAVRKGLV
GPELHDRLLS AERAVTGYRD PYTEQTISLF QAMKKELIPT EEALRLLDAQ LATGGIVDPR
LGFHLPLEVA YQRGYLNKDT HDQLSEPSEV RSYVDPSTDE RLSYTQLLRR CRRDDGTGQL
LLPLSDARKL TFRGLRKQIT MEELVRSQVM DEATALQLRE GLTSIEEVTK NLQKFLEGTS
CIAGVFVDAT KERLSVYQAM KKGIIRPGTA FELLEAQAAT GYVIDPIKGL KLTVEEAVRM
GIVGPEFKDK LLSAERAVTG YKDPYSGKLI SLFQAMKKGL ILKDHGIRLL EAQIATGGII
DPEESHRLPV EVAYKRGLFD EEMNEILTDP SDDTKGFFDP NTEENLTYLQ LMERCITDPQ
TGLCLLPLKE KKRERKTSSK SSVRKRRVVI VDPETGKEMS VYEAYRKGLI DHQTYLELSE
QECEWEEITI SSSDGVVKSM IIDRRSGRQY DIDDAIAKNL IDRSALDQYR AGTLSITEFA
DMLSGNAGGF RSRSSSVGSS SSYPISPAVS RTQLASWSDP TEETGPVAGI LDTETLEKVS
ITEAMHRNLV DNITGQRLLE AQACTGGIID PSTGERFPVT DAVNKGLVDK IMVDRINLAQ
KAFCGFEDPR TKTKMSAAQA LKKGWLYYEA GQRFLEVQYL TGGLIEPDTP GRVPLDEALQ
RGTVDARTAQ KLRDVGAYSK YLTCPKTKLK ISYKDALDRS MVEEGTGLRL LEAAAQSTKG
YYSPYSVSGS GSTAGSRTGS RTGSRAGSRR GSFDATGSGF SMTFSSSSYS SSGYGRRYAS
GSSASLGGPE SAVA*

mutated AA sequence

MSGEDAEVRA VSEDVSNGSS GSPSPGDTLP WNLGKTQRSR RSGGGAGSNG SVLDPAERAV
IRIADERDRV QKKTFTKWVN KHLIKAQRHI SDLYEDLRDG HNLISLLEVL SGDSLPREKG
RMRFHKLQNV QIALDYLRHR QVKLVNIRND DIADGNPKLT LGLIWTIILH FQISDIQVSG
QSEDMTAKEK LLLWSQRMVE GYQGLRCDNF TSSWRDGRLF NAIIHRHKPL LIDMNKVYRQ
TNLENLDQAF SVAERDLGVT RLLDPEDVDV PQPDEKSIIT YVSSLYDAMP RVPDVQDGVR
ANELQLRWQE YRELVLLLLQ WMRHHTAAFE ERRFPSSFEE IEILWSQFLK FKEMELPAKE
ADKNRSKGIY QSLEGAVQAG QLKVPPGYHP LDVEKEWGKL HVAILEREKQ LRSEFERLEC
LQRIVTKLQM EAGLCEEQLN QADALLQSDV RLLAAGKVPQ RAGEVERDLD KADSMIRLLF
NDVQTLKDGR HPQGEQMYRR VYRLHERLVA IRTEYNLRLK AGVAAPATQV AQVTLQSVQR
RPELEDSTLR YLQDLLAWVE ENQHRVDGAE WGVDLPSVEA QLGSHRGLHQ SIEEFRAKIE
RARSDEGQLS PATRGAYRDC LGRLDLQYAK LLNSSKARLR SLESLHSFVA AATKELMWLN
EKEEEEVGFD WSDRNTNMTA KKESYSALMR ELELKEKKIK ELQNAGDRLL REDHPARPTV
ESFQAALQTQ WSWMLQLCCC IEAHLKENAA YFQFFSDVRE AEGQLQKLQE ALRRKYSCDR
SATVTRLEDL LQDAQDEKEQ LNEYKGHLSG LAKRAKAVVQ LKPRHPAHPM RGRLPLLAVC
DYKQVEVTVH KGDECQLVGP AQPSHWKVLS SSGSEAAVPS VCFLVPPPNQ EAQEAVTRLE
AQHQALVTLW HQLHVDMKSL LAWQSLRRDV QLIRSWSLAT FRTLKPEEQR QALHSLELHY
QAFLRDSQDA GGFGPEDRLM AEREYGSCSH HYQQLLQSLE QGAQEESRCQ RCISELKDIR
LQLEACETRT VHRLRLPLDK EPARECAQRI AEQQKAQAEV EGLGKGVARL SAEAEKVLAL
PEPSPAAPTL RSELELTLGK LEQVRSLSAI YLEKLKTISL VIRGTQGAEE VLRAHEEQLK
EAQAVPATLP ELEATKASLK KLRAQAEAQQ PTFDALRDEL RGAQEVGERL QQRHGERDVE
VERWRERVAQ LLERWQAVLA QTDVRQRELE QLGRQLRYYR ESADPLGAWL QDARRRQEQI
QAMPLADSQA VREQLRQEQA LLEEIERHGE KVEECQRFAK QYINAIKDYE LQLVTYKAQL
EPVASPAKKP KVQSGSESVI QEYVDLRTHY SELTTLTSQY IKFISETLRR MEEEERLAEQ
QRAEERERLA EVEAALEKQR QLAEAHAQAK AQAEREAKEL QQRMQEEVVR REEAAVDAQQ
QKRSIQEELQ QLRQSSEAEI QAKARQAEAA ERSRLRIEEE IRVVRLQLEA TERQRGGAEG
ELQALRARAE EAEAQKRQAQ EEAERLRRQV QDESQRKRQA EVELASRVKA EAEAAREKQR
ALQALEELRL QAEEAERRLR QAEVERARQV QVALETAQRS AEAELQSKRA SFAEKTAQLE
RSLQEEHVAV AQLREEAERR AQQQAEAERA REEAERELER WQLKANEALR LRLQAEEVAQ
QKSLAQAEAE KQKEEAEREA RRRGKAEEQA VRQRELAEQE LEKQRQLAEG TAQQRLAAEQ
ELIRLRAETE QGEQQRQLLE EELARLQREA AAATQKRQEL EAELAKVRAE MEVLLASKAR
AEEESRSTSE KSKQRLEAEA GRFRELAEEA ARLRALAEEA KRQRQLAEED AARQRAEAER
VLAEKLAAIG EATRLKTEAE IALKEKEAEN ERLRRLAEDE AFQRRRLEEQ AAQHKADIEE
RLAQLRKASD SELERQKGLV EDTLRQRRQV EEEILALKAS FEKAAAGKAE LELELGRIRS
NAEDTLRSKE QAELEAARQR QLAAEEERRR REAEERVQKS LAAEEEAARQ RKAALEEVER
LKAKVEEARR LRERAEQESA RQLQLAQEAA QKRLQAEEKA HAFAVQQKEQ ELQQTLQQEQ
SVLDQLRGEA EAARRAAEEA EEARVQAERE AAQSRRQVEE AERLKQSAEE QAQARAQAQA
AAEKLRKEAE QEAARRAQAE QAALRQKQAA DAEMEKHKKF AEQTLRQKAQ VEQELTTLRL
QLEETDHQKN LLDEELQRLK AEATEAARQR SQVEEELFSV RVQMEELSKL KARIEAENRA
LILRDKDNTQ RFLQEEAEKM KQVAEEAARL SVAAQEAARL RQLAEEDLAQ QRALAEKMLK
EKMQAVQEAT RLKAEAELLQ QQKELAQEQA RRLQEDKEQM AQQLAEETQG FQRTLEAERQ
RQLEMSAEAE RLKLRVAEMS RAQARAEEDA QRFRKQAEEI GEKLHRTELA TQEKVTLVQT
LEIQRQQSDH DAERLREAIA ELEREKEKLQ QEAKLLQLKS EEMQTVQQEQ LLQETQALQQ
SFLSEKDSLL QRERFIEQEK AKLEQLFQDE VAKAQQLREE QQRQQQQMEQ ERQRLVASME
EARRRQHEAE EGVRRKQEEL QQLEQQRRQQ EELLAEENQR LREQLQLLEE QHRAALAHSE
EVTASQVAAT KTLPNGRDAL DGPAAEAEPE HSFDGLRRKV PAQRLQEAGI LSAEELQRLA
QGHTTVDELA RREDVRHYLQ GRSSIAGLLL KATNEKLSVY AALQRQLLSP GTALILLEAQ
AASGFLLDPV RNRRLTVNEA VKEGVVGPEL HHKLLSAERA VTGYKDPYTG QQISLFQAMQ
KGLIVREHGI RLLEAQIATG GVIDPVHSHR VPVDVAYRRG YFDEEMNRVL ADPSDDTKGF
FDPNTHENLT YLQLLERCVE DPETGLCLLP LTDKAAKGGE LVYTDSEARD VFEKATVSAP
FGKFQGKTVT IWEIINSEYF TAEQRRDLLR QFRTGRITVE KIIKIIITVV EEQEQKGRLC
FEGLRSLVPA AELLESRVID RELYQQLQRG ERSVRDVAEV DTVRRALRGA NVIAGVWLEE
AGQKLSIYNA LKKDLLPSDM AVALLEAQAG TGHIIDPATS ARLTVDEAVR AGLVGPEFHE
KLLSAEKAVT GYRDPYTGQS VSLFQALKKG LIPREQGLRL LDAQLSTGGI VDPSKSHRVP
LDVACARGCL DEETSRALSA PRADAKAYSD PSTGEPATYG ELQQRCRPDQ LTGLSLLPLS
EKAARARQEE LYSELQARET FEKTPVEVPV GGFKGRTVTV WELISSEYFT AEQRQELLRQ
FRTGKVTVEK VIKILITIVE EVETLRQERL SFSGLRAPVP ASELLASGVL SRAQFEQLKD
GKTTVKDLSE LGSVRTLLQG SGCLAGIYLE DTKEKVSIYE AMRRGLLRAT TAALLLEAQA
ATGFLVDPVR NQRLYVHEAV KAGVVGPELH EQLLSAEKAV TGYRDPYSGS TISLFQAMQK
GLVLRQHGIR LLEAQIATGG IIDPVHSHRV PVDVAYQRGY FSEEMNRVLA DPSDDTKGFF
DPNTHENLTY RQLLERCVED PETGLRLLPL KGAEKAEVVE TTQVYTEEET RRAFEETQID
IPGGGSHGGS TMSLWEVMQS DLIPEEQRAQ LMADFQAGRV TKERMIIIII EIIEKTEIIR
QQGLASYDYV RRRLTAEDLF EARIISLETY NLLREGTRSL REALEAESAW CYLYGTGSVA
GVYLPGSRQT LSIYQALKKG LLSAEVARLL LEAQAATGFL LDPVKGERLT VDEAVRKGLV
GPELHDRLLS AERAVTGYRD PYTEQTISLF QAMKKELIPT EEALRLLDAQ LATGGIVDPR
LGFHLPLEVA YQRGYLNKDT HDQLSEPSEV RSYVDPSTDE RLSYTQLLRR CRRDDGTGQL
LLPLSDARKL TFRGLRKQIT MEELVRSQVM DEATALQLRE GLTSIEEVTK NLQKFLEGTS
CIAGVFVDAT KERLSVYQAM KKGIIRPGTA FELLEAQAAT GYVIDPIKGL KLTVEEAVRM
GIVGPEFKDK LLSAERAVTG YKDPYSGKLI SLFQAMKKGL ILKDHGIRLL EAQIATGGII
DPEESHRLPV EVAYKRGLFD EEMNEILTDP SDDTKGFFDP NTEENLTYLQ LMERCITDPQ
TGLCLLPLKE KKRERKTSSK SSVRKRRVVI VDPETGKEMS VYEAYRKGLI DHQTYLELSE
QECEWEEITI SSSDGVVKSM IIDRRSGRQY DIDDAIAKNL IDRSALDQYR AGTLSITEFA
DMLSGNAGGF RSRSSSVGSS SSYPISPAVS RTQLASWSDP TEETGPVAGI LDTETLEKVS
ITEAMHRNLV DNITGQRLLE AQACTGGIID PSTGERFPVT DAVNKGLVDK IMVDRINLAQ
KAFCGFEDPR TKTKMSAAQA LKKGWLYYEA GQRFLEVQYL TGGLIEPDTP GRVPLDEALQ
RGTVDARTAQ KLRDVGAYSK YLTCPKTKLK ISYKDALDRS MVEEGTGLRL LEAAAQSTKG
YYSPYSVSGS GSTAGSRTGS RTGSRAGSRR GSFDATGSGF SMTFSSSSYS SSGYGRRYAS
GSSASLGGPE SAVA*

speed

0.49 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999727159578415 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:144996029A>GN/A show variant in all transcripts IGV

HGNC symbol

PLEC

Ensembl transcript ID

ENST00000527096

Genbank transcript ID

N/A

UniProt peptide

Q15149

alteration type

single base exchange

alteration region

CDS

DNA changes

c.8029T>C
cDNA.8029T>C
g.54874T>C

AA changes

S2677P Score: 74 explain score(s)

position(s) of altered AA
if AA alteration in CDS

2677

frameshift

known variant

Reference ID: rs7833924

database	homozygous (G/G)	heterozygous	allele carriers
1000G	736	865	1601
ExAC	10289	12189	22478

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.03	0.983
	0.621	0.98
(flanking)	0.034	0.978

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	54876	wt: 0.7442 / mu: 0.7665 (marginal change - not scored)	wt: GTGTCAGCTCAGAGG mu: GTGCCAGCTCAGAGG	GTCA\|gctc
Donor marginally increased	54865	wt: 0.9267 / mu: 0.9722 (marginal change - not scored)	wt: TGCGGCGGAAGGTGT mu: TGCGGCGGAAGGTGC	CGGC\|ggaa
Donor gained	54878	0.51	mu: GCCAGCTCAGAGGCT	CAGC\|tcag

distance from splice site

535

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

2677

mutated

not conserved

2677

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000000388

2791

Fcatus

not conserved

ENSFCAG00000001046

3113

Mmusculus

not conserved

ENSMUSG00000022565

2799

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000003715

2794

Drerio

not conserved

ENSDARG00000021987

2668

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1469	2756	COILED	Potential.	lost
1471	2755	REGION	Central fibrous rod domain.	lost
2755	2755	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2756	4684	REGION	Globular 2.	might get lost (downstream of altered splice site)
2814	2814	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2826	2863	REPEAT	Plectin 1.	might get lost (downstream of altered splice site)
2841	2841	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2864	2901	REPEAT	Plectin 2.	might get lost (downstream of altered splice site)
2902	2939	REPEAT	Plectin 3.	might get lost (downstream of altered splice site)
2940	2977	REPEAT	Plectin 4.	might get lost (downstream of altered splice site)
2981	3015	REPEAT	Plectin 5.	might get lost (downstream of altered splice site)
3027	3027	CONFLICT	K -> E (in Ref. 2; AAB05427/AAB05428).	might get lost (downstream of altered splice site)
3033	3033	MOD_RES	Phosphotyrosine (By similarity).	might get lost (downstream of altered splice site)
3091	3091	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
3116	3153	REPEAT	Plectin 6.	might get lost (downstream of altered splice site)
3154	3191	REPEAT	Plectin 7.	might get lost (downstream of altered splice site)
3192	3229	REPEAT	Plectin 8.	might get lost (downstream of altered splice site)
3230	3267	REPEAT	Plectin 9.	might get lost (downstream of altered splice site)
3268	3305	REPEAT	Plectin 10.	might get lost (downstream of altered splice site)
3306	3343	REPEAT	Plectin 11.	might get lost (downstream of altered splice site)
3310	3310	CONFLICT	A -> E (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3361	3361	CONFLICT	L -> F (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3362	3362	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
3408	3408	CONFLICT	L -> F (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3420	3420	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
3447	3447	CONFLICT	A -> S (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3485	3522	REPEAT	Plectin 12.	might get lost (downstream of altered splice site)
3523	3560	REPEAT	Plectin 13.	might get lost (downstream of altered splice site)
3531	3531	CONFLICT	A -> G (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3561	3598	REPEAT	Plectin 14.	might get lost (downstream of altered splice site)
3580	3580	CONFLICT	S -> R (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3589	3589	CONFLICT	Q -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3596	3596	CONFLICT	Q -> E (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3599	3636	REPEAT	Plectin 15.	might get lost (downstream of altered splice site)
3616	3616	CONFLICT	H -> N (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3640	3674	REPEAT	Plectin 16.	might get lost (downstream of altered splice site)
3686	3686	CONFLICT	A -> V (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3786	3786	CONFLICT	A -> G (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3808	3808	CONFLICT	R -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3816	3816	CONFLICT	A -> G (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3820	3857	REPEAT	Plectin 17.	might get lost (downstream of altered splice site)
3821	3821	CONFLICT	C -> F (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3858	3895	REPEAT	Plectin 18.	might get lost (downstream of altered splice site)
3896	3933	REPEAT	Plectin 19.	might get lost (downstream of altered splice site)
3915	3915	CONFLICT	Q -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3934	3971	REPEAT	Plectin 20.	might get lost (downstream of altered splice site)
3975	4008	REPEAT	Plectin 21.	might get lost (downstream of altered splice site)
3999	3999	CONFLICT	R -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
4007	4007	CONFLICT	T -> S (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
4030	4030	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4063	4100	REPEAT	Plectin 22.	might get lost (downstream of altered splice site)
4101	4138	REPEAT	Plectin 23.	might get lost (downstream of altered splice site)
4139	4176	REPEAT	Plectin 24.	might get lost (downstream of altered splice site)
4155	4155	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4177	4214	REPEAT	Plectin 25.	might get lost (downstream of altered splice site)
4218	4252	REPEAT	Plectin 26.	might get lost (downstream of altered splice site)
4250	4300	REGION	Binding to intermediate filaments (By similarity).	might get lost (downstream of altered splice site)
4265	4305	REPEAT	Plectin 27.	might get lost (downstream of altered splice site)
4319	4356	REPEAT	Plectin 28.	might get lost (downstream of altered splice site)
4382	4382	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4384	4384	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4385	4385	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4386	4386	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4389	4389	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4390	4390	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4391	4391	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
4392	4392	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4393	4393	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4396	4396	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4400	4400	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4402	4402	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4408	4445	REPEAT	Plectin 29.	might get lost (downstream of altered splice site)
4411	4411	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4446	4483	REPEAT	Plectin 30.	might get lost (downstream of altered splice site)
4467	4467	CONFLICT	F -> L (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
4484	4521	REPEAT	Plectin 31.	might get lost (downstream of altered splice site)
4522	4559	REPEAT	Plectin 32.	might get lost (downstream of altered splice site)
4539	4539	MOD_RES	Phosphothreonine; by CDK1 (By similarity).	might get lost (downstream of altered splice site)
4560	4597	REPEAT	Plectin 33.	might get lost (downstream of altered splice site)
4611	4611	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4613	4613	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4615	4615	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4618	4618	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4620	4620	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4622	4622	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4623	4623	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4625	4640	REGION	4 X 4 AA tandem repeats of G-S-R-X.	might get lost (downstream of altered splice site)
4626	4626	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4628	4628	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4642	4642	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4658	4658	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4675	4675	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

13713 / 13713

position (AA) of stopcodon in wt / mu AA sequence

4571 / 4571

position of stopcodon in wt / mu cDNA

13713 / 13713

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

1 / 1

chromosome

strand

-1

last intron/exon boundary

7495

theoretical NMD boundary in CDS

7444

length of CDS

13713

coding sequence (CDS) position

8029

cDNA position
(for ins/del: last normal base / first normal base)

8029

gDNA position
(for ins/del: last normal base / first normal base)

54874

chromosomal position
(for ins/del: last normal base / first normal base)

144996029

original gDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGTCAGCTCAGAGGCTGCAGGAG

altered gDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGCCAGCTCAGAGGCTGCAGGAG

original cDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGTCAGCTCAGAGGCTGCAGGAG

altered cDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGCCAGCTCAGAGGCTGCAGGAG

wildtype AA sequence

MSGEDAEVRA VSEDVSNGSS GSPSPGDTLP WNLGKTQRSR RSGGGAGSNG SVLDPAERAV
IRIADERDRV QKKTFTKWVN KHLIKAQRHI SDLYEDLRDG HNLISLLEVL SGDSLPREKG
RMRFHKLQNV QIALDYLRHR QVKLVNIRND DIADGNPKLT LGLIWTIILH FQISDIQVSG
QSEDMTAKEK LLLWSQRMVE GYQGLRCDNF TSSWRDGRLF NAIIHRHKPL LIDMNKVYRQ
TNLENLDQAF SVAERDLGVT RLLDPEDVDV PQPDEKSIIT YVSSLYDAMP RVPDVQDGEL
QLRWQEYREL VLLLLQWMRH HTAAFEERRF PSSFEEIEIL WSQFLKFKEM ELPAKEADKN
RSKGIYQSLE GAVQAGQLKV PPGYHPLDVE KEWGKLHVAI LEREKQLRSE FERLECLQRI
VTKLQMEAGL CEEQLNQADA LLQSDVRLLA AGKVPQRAGE VERDLDKADS MIRLLFNDVQ
TLKDGRHPQG EQMYRRVYRL HERLVAIRTE YNLRLKAGVA APATQVAQVT LQSVQRRPEL
EDSTLRYLQD LLAWVEENQH RVDGAEWGVD LPSVEAQLGS HRGLHQSIEE FRAKIERARS
DEGQLSPATR GAYRDCLGRL DLQYAKLLNS SKARLRSLES LHSFVAAATK ELMWLNEKEE
EEVGFDWSDR NTNMTAKKES YSALMRELEL KEKKIKELQN AGDRLLREDH PARPTVESFQ
AALQTQWSWM LQLCCCIEAH LKENAAYFQF FSDVREAEGQ LQKLQEALRR KYSCDRSATV
TRLEDLLQDA QDEKEQLNEY KGHLSGLAKR AKAVVQLKPR HPAHPMRGRL PLLAVCDYKQ
VEVTVHKGDE CQLVGPAQPS HWKVLSSSGS EAAVPSVCFL VPPPNQEAQE AVTRLEAQHQ
ALVTLWHQLH VDMKSLLAWQ SLRRDVQLIR SWSLATFRTL KPEEQRQALH SLELHYQAFL
RDSQDAGGFG PEDRLMAERE YGSCSHHYQQ LLQSLEQGAQ EESRCQRCIS ELKDIRLQLE
ACETRTVHRL RLPLDKEPAR ECAQRIAEQQ KAQAEVEGLG KGVARLSAEA EKVLALPEPS
PAAPTLRSEL ELTLGKLEQV RSLSAIYLEK LKTISLVIRG TQGAEEVLRA HEEQLKEAQA
VPATLPELEA TKASLKKLRA QAEAQQPTFD ALRDELRGAQ EVGERLQQRH GERDVEVERW
RERVAQLLER WQAVLAQTDV RQRELEQLGR QLRYYRESAD PLGAWLQDAR RRQEQIQAMP
LADSQAVREQ LRQEQALLEE IERHGEKVEE CQRFAKQYIN AIKDYELQLV TYKAQLEPVA
SPAKKPKVQS GSESVIQEYV DLRTHYSELT TLTSQYIKFI SETLRRMEEE ERLAEQQRAE
ERERLAEVEA ALEKQRQLAE AHAQAKAQAE REAKELQQRM QEEVVRREEA AVDAQQQKRS
IQEELQQLRQ SSEAEIQAKA RQAEAAERSR LRIEEEIRVV RLQLEATERQ RGGAEGELQA
LRARAEEAEA QKRQAQEEAE RLRRQVQDES QRKRQAEVEL ASRVKAEAEA AREKQRALQA
LEELRLQAEE AERRLRQAEV ERARQVQVAL ETAQRSAEAE LQSKRASFAE KTAQLERSLQ
EEHVAVAQLR EEAERRAQQQ AEAERAREEA ERELERWQLK ANEALRLRLQ AEEVAQQKSL
AQAEAEKQKE EAEREARRRG KAEEQAVRQR ELAEQELEKQ RQLAEGTAQQ RLAAEQELIR
LRAETEQGEQ QRQLLEEELA RLQREAAAAT QKRQELEAEL AKVRAEMEVL LASKARAEEE
SRSTSEKSKQ RLEAEAGRFR ELAEEAARLR ALAEEAKRQR QLAEEDAARQ RAEAERVLAE
KLAAIGEATR LKTEAEIALK EKEAENERLR RLAEDEAFQR RRLEEQAAQH KADIEERLAQ
LRKASDSELE RQKGLVEDTL RQRRQVEEEI LALKASFEKA AAGKAELELE LGRIRSNAED
TLRSKEQAEL EAARQRQLAA EEERRRREAE ERVQKSLAAE EEAARQRKAA LEEVERLKAK
VEEARRLRER AEQESARQLQ LAQEAAQKRL QAEEKAHAFA VQQKEQELQQ TLQQEQSVLD
QLRGEAEAAR RAAEEAEEAR VQAEREAAQS RRQVEEAERL KQSAEEQAQA RAQAQAAAEK
LRKEAEQEAA RRAQAEQAAL RQKQAADAEM EKHKKFAEQT LRQKAQVEQE LTTLRLQLEE
TDHQKNLLDE ELQRLKAEAT EAARQRSQVE EELFSVRVQM EELSKLKARI EAENRALILR
DKDNTQRFLQ EEAEKMKQVA EEAARLSVAA QEAARLRQLA EEDLAQQRAL AEKMLKEKMQ
AVQEATRLKA EAELLQQQKE LAQEQARRLQ EDKEQMAQQL AEETQGFQRT LEAERQRQLE
MSAEAERLKL RVAEMSRAQA RAEEDAQRFR KQAEEIGEKL HRTELATQEK VTLVQTLEIQ
RQQSDHDAER LREAIAELER EKEKLQQEAK LLQLKSEEMQ TVQQEQLLQE TQALQQSFLS
EKDSLLQRER FIEQEKAKLE QLFQDEVAKA QQLREEQQRQ QQQMEQERQR LVASMEEARR
RQHEAEEGVR RKQEELQQLE QQRRQQEELL AEENQRLREQ LQLLEEQHRA ALAHSEEVTA
SQVAATKTLP NGRDALDGPA AEAEPEHSFD GLRRKVSAQR LQEAGILSAE ELQRLAQGHT
TVDELARRED VRHYLQGRSS IAGLLLKATN EKLSVYAALQ RQLLSPGTAL ILLEAQAASG
FLLDPVRNRR LTVNEAVKEG VVGPELHHKL LSAERAVTGY KDPYTGQQIS LFQAMQKGLI
VREHGIRLLE AQIATGGVID PVHSHRVPVD VAYRRGYFDE EMNRVLADPS DDTKGFFDPN
THENLTYLQL LERCVEDPET GLCLLPLTDK AAKGGELVYT DSEARDVFEK ATVSAPFGKF
QGKTVTIWEI INSEYFTAEQ RRDLLRQFRT GRITVEKIIK IIITVVEEQE QKGRLCFEGL
RSLVPAAELL ESRVIDRELY QQLQRGERSV RDVAEVDTVR RALRGANVIA GVWLEEAGQK
LSIYNALKKD LLPSDMAVAL LEAQAGTGHI IDPATSARLT VDEAVRAGLV GPEFHEKLLS
AEKAVTGYRD PYTGQSVSLF QALKKGLIPR EQGLRLLDAQ LSTGGIVDPS KSHRVPLDVA
CARGCLDEET SRALSAPRAD AKAYSDPSTG EPATYGELQQ RCRPDQLTGL SLLPLSEKAA
RARQEELYSE LQARETFEKT PVEVPVGGFK GRTVTVWELI SSEYFTAEQR QELLRQFRTG
KVTVEKVIKI LITIVEEVET LRQERLSFSG LRAPVPASEL LASGVLSRAQ FEQLKDGKTT
VKDLSELGSV RTLLQGSGCL AGIYLEDTKE KVSIYEAMRR GLLRATTAAL LLEAQAATGF
LVDPVRNQRL YVHEAVKAGV VGPELHEQLL SAEKAVTGYR DPYSGSTISL FQAMQKGLVL
RQHGIRLLEA QIATGGIIDP VHSHRVPVDV AYQRGYFSEE MNRVLADPSD DTKGFFDPNT
HENLTYRQLL ERCVEDPETG LRLLPLKGAE KAEVVETTQV YTEEETRRAF EETQIDIPGG
GSHGGSTMSL WEVMQSDLIP EEQRAQLMAD FQAGRVTKER MIIIIIEIIE KTEIIRQQGL
ASYDYVRRRL TAEDLFEARI ISLETYNLLR EGTRSLREAL EAESAWCYLY GTGSVAGVYL
PGSRQTLSIY QALKKGLLSA EVARLLLEAQ AATGFLLDPV KGERLTVDEA VRKGLVGPEL
HDRLLSAERA VTGYRDPYTE QTISLFQAMK KELIPTEEAL RLLDAQLATG GIVDPRLGFH
LPLEVAYQRG YLNKDTHDQL SEPSEVRSYV DPSTDERLSY TQLLRRCRRD DGTGQLLLPL
SDARKLTFRG LRKQITMEEL VRSQVMDEAT ALQLREGLTS IEEVTKNLQK FLEGTSCIAG
VFVDATKERL SVYQAMKKGI IRPGTAFELL EAQAATGYVI DPIKGLKLTV EEAVRMGIVG
PEFKDKLLSA ERAVTGYKDP YSGKLISLFQ AMKKGLILKD HGIRLLEAQI ATGGIIDPEE
SHRLPVEVAY KRGLFDEEMN EILTDPSDDT KGFFDPNTEE NLTYLQLMER CITDPQTGLC
LLPLKEKKRE RKTSSKSSVR KRRVVIVDPE TGKEMSVYEA YRKGLIDHQT YLELSEQECE
WEEITISSSD GVVKSMIIDR RSGRQYDIDD AIAKNLIDRS ALDQYRAGTL SITEFADMLS
GNAGGFRSRS SSVGSSSSYP ISPAVSRTQL ASWSDPTEET GPVAGILDTE TLEKVSITEA
MHRNLVDNIT GQRLLEAQAC TGGIIDPSTG ERFPVTDAVN KGLVDKIMVD RINLAQKAFC
GFEDPRTKTK MSAAQALKKG WLYYEAGQRF LEVQYLTGGL IEPDTPGRVP LDEALQRGTV
DARTAQKLRD VGAYSKYLTC PKTKLKISYK DALDRSMVEE GTGLRLLEAA AQSTKGYYSP
YSVSGSGSTA GSRTGSRTGS RAGSRRGSFD ATGSGFSMTF SSSSYSSSGY GRRYASGSSA
SLGGPESAVA *

mutated AA sequence

MSGEDAEVRA VSEDVSNGSS GSPSPGDTLP WNLGKTQRSR RSGGGAGSNG SVLDPAERAV
IRIADERDRV QKKTFTKWVN KHLIKAQRHI SDLYEDLRDG HNLISLLEVL SGDSLPREKG
RMRFHKLQNV QIALDYLRHR QVKLVNIRND DIADGNPKLT LGLIWTIILH FQISDIQVSG
QSEDMTAKEK LLLWSQRMVE GYQGLRCDNF TSSWRDGRLF NAIIHRHKPL LIDMNKVYRQ
TNLENLDQAF SVAERDLGVT RLLDPEDVDV PQPDEKSIIT YVSSLYDAMP RVPDVQDGEL
QLRWQEYREL VLLLLQWMRH HTAAFEERRF PSSFEEIEIL WSQFLKFKEM ELPAKEADKN
RSKGIYQSLE GAVQAGQLKV PPGYHPLDVE KEWGKLHVAI LEREKQLRSE FERLECLQRI
VTKLQMEAGL CEEQLNQADA LLQSDVRLLA AGKVPQRAGE VERDLDKADS MIRLLFNDVQ
TLKDGRHPQG EQMYRRVYRL HERLVAIRTE YNLRLKAGVA APATQVAQVT LQSVQRRPEL
EDSTLRYLQD LLAWVEENQH RVDGAEWGVD LPSVEAQLGS HRGLHQSIEE FRAKIERARS
DEGQLSPATR GAYRDCLGRL DLQYAKLLNS SKARLRSLES LHSFVAAATK ELMWLNEKEE
EEVGFDWSDR NTNMTAKKES YSALMRELEL KEKKIKELQN AGDRLLREDH PARPTVESFQ
AALQTQWSWM LQLCCCIEAH LKENAAYFQF FSDVREAEGQ LQKLQEALRR KYSCDRSATV
TRLEDLLQDA QDEKEQLNEY KGHLSGLAKR AKAVVQLKPR HPAHPMRGRL PLLAVCDYKQ
VEVTVHKGDE CQLVGPAQPS HWKVLSSSGS EAAVPSVCFL VPPPNQEAQE AVTRLEAQHQ
ALVTLWHQLH VDMKSLLAWQ SLRRDVQLIR SWSLATFRTL KPEEQRQALH SLELHYQAFL
RDSQDAGGFG PEDRLMAERE YGSCSHHYQQ LLQSLEQGAQ EESRCQRCIS ELKDIRLQLE
ACETRTVHRL RLPLDKEPAR ECAQRIAEQQ KAQAEVEGLG KGVARLSAEA EKVLALPEPS
PAAPTLRSEL ELTLGKLEQV RSLSAIYLEK LKTISLVIRG TQGAEEVLRA HEEQLKEAQA
VPATLPELEA TKASLKKLRA QAEAQQPTFD ALRDELRGAQ EVGERLQQRH GERDVEVERW
RERVAQLLER WQAVLAQTDV RQRELEQLGR QLRYYRESAD PLGAWLQDAR RRQEQIQAMP
LADSQAVREQ LRQEQALLEE IERHGEKVEE CQRFAKQYIN AIKDYELQLV TYKAQLEPVA
SPAKKPKVQS GSESVIQEYV DLRTHYSELT TLTSQYIKFI SETLRRMEEE ERLAEQQRAE
ERERLAEVEA ALEKQRQLAE AHAQAKAQAE REAKELQQRM QEEVVRREEA AVDAQQQKRS
IQEELQQLRQ SSEAEIQAKA RQAEAAERSR LRIEEEIRVV RLQLEATERQ RGGAEGELQA
LRARAEEAEA QKRQAQEEAE RLRRQVQDES QRKRQAEVEL ASRVKAEAEA AREKQRALQA
LEELRLQAEE AERRLRQAEV ERARQVQVAL ETAQRSAEAE LQSKRASFAE KTAQLERSLQ
EEHVAVAQLR EEAERRAQQQ AEAERAREEA ERELERWQLK ANEALRLRLQ AEEVAQQKSL
AQAEAEKQKE EAEREARRRG KAEEQAVRQR ELAEQELEKQ RQLAEGTAQQ RLAAEQELIR
LRAETEQGEQ QRQLLEEELA RLQREAAAAT QKRQELEAEL AKVRAEMEVL LASKARAEEE
SRSTSEKSKQ RLEAEAGRFR ELAEEAARLR ALAEEAKRQR QLAEEDAARQ RAEAERVLAE
KLAAIGEATR LKTEAEIALK EKEAENERLR RLAEDEAFQR RRLEEQAAQH KADIEERLAQ
LRKASDSELE RQKGLVEDTL RQRRQVEEEI LALKASFEKA AAGKAELELE LGRIRSNAED
TLRSKEQAEL EAARQRQLAA EEERRRREAE ERVQKSLAAE EEAARQRKAA LEEVERLKAK
VEEARRLRER AEQESARQLQ LAQEAAQKRL QAEEKAHAFA VQQKEQELQQ TLQQEQSVLD
QLRGEAEAAR RAAEEAEEAR VQAEREAAQS RRQVEEAERL KQSAEEQAQA RAQAQAAAEK
LRKEAEQEAA RRAQAEQAAL RQKQAADAEM EKHKKFAEQT LRQKAQVEQE LTTLRLQLEE
TDHQKNLLDE ELQRLKAEAT EAARQRSQVE EELFSVRVQM EELSKLKARI EAENRALILR
DKDNTQRFLQ EEAEKMKQVA EEAARLSVAA QEAARLRQLA EEDLAQQRAL AEKMLKEKMQ
AVQEATRLKA EAELLQQQKE LAQEQARRLQ EDKEQMAQQL AEETQGFQRT LEAERQRQLE
MSAEAERLKL RVAEMSRAQA RAEEDAQRFR KQAEEIGEKL HRTELATQEK VTLVQTLEIQ
RQQSDHDAER LREAIAELER EKEKLQQEAK LLQLKSEEMQ TVQQEQLLQE TQALQQSFLS
EKDSLLQRER FIEQEKAKLE QLFQDEVAKA QQLREEQQRQ QQQMEQERQR LVASMEEARR
RQHEAEEGVR RKQEELQQLE QQRRQQEELL AEENQRLREQ LQLLEEQHRA ALAHSEEVTA
SQVAATKTLP NGRDALDGPA AEAEPEHSFD GLRRKVPAQR LQEAGILSAE ELQRLAQGHT
TVDELARRED VRHYLQGRSS IAGLLLKATN EKLSVYAALQ RQLLSPGTAL ILLEAQAASG
FLLDPVRNRR LTVNEAVKEG VVGPELHHKL LSAERAVTGY KDPYTGQQIS LFQAMQKGLI
VREHGIRLLE AQIATGGVID PVHSHRVPVD VAYRRGYFDE EMNRVLADPS DDTKGFFDPN
THENLTYLQL LERCVEDPET GLCLLPLTDK AAKGGELVYT DSEARDVFEK ATVSAPFGKF
QGKTVTIWEI INSEYFTAEQ RRDLLRQFRT GRITVEKIIK IIITVVEEQE QKGRLCFEGL
RSLVPAAELL ESRVIDRELY QQLQRGERSV RDVAEVDTVR RALRGANVIA GVWLEEAGQK
LSIYNALKKD LLPSDMAVAL LEAQAGTGHI IDPATSARLT VDEAVRAGLV GPEFHEKLLS
AEKAVTGYRD PYTGQSVSLF QALKKGLIPR EQGLRLLDAQ LSTGGIVDPS KSHRVPLDVA
CARGCLDEET SRALSAPRAD AKAYSDPSTG EPATYGELQQ RCRPDQLTGL SLLPLSEKAA
RARQEELYSE LQARETFEKT PVEVPVGGFK GRTVTVWELI SSEYFTAEQR QELLRQFRTG
KVTVEKVIKI LITIVEEVET LRQERLSFSG LRAPVPASEL LASGVLSRAQ FEQLKDGKTT
VKDLSELGSV RTLLQGSGCL AGIYLEDTKE KVSIYEAMRR GLLRATTAAL LLEAQAATGF
LVDPVRNQRL YVHEAVKAGV VGPELHEQLL SAEKAVTGYR DPYSGSTISL FQAMQKGLVL
RQHGIRLLEA QIATGGIIDP VHSHRVPVDV AYQRGYFSEE MNRVLADPSD DTKGFFDPNT
HENLTYRQLL ERCVEDPETG LRLLPLKGAE KAEVVETTQV YTEEETRRAF EETQIDIPGG
GSHGGSTMSL WEVMQSDLIP EEQRAQLMAD FQAGRVTKER MIIIIIEIIE KTEIIRQQGL
ASYDYVRRRL TAEDLFEARI ISLETYNLLR EGTRSLREAL EAESAWCYLY GTGSVAGVYL
PGSRQTLSIY QALKKGLLSA EVARLLLEAQ AATGFLLDPV KGERLTVDEA VRKGLVGPEL
HDRLLSAERA VTGYRDPYTE QTISLFQAMK KELIPTEEAL RLLDAQLATG GIVDPRLGFH
LPLEVAYQRG YLNKDTHDQL SEPSEVRSYV DPSTDERLSY TQLLRRCRRD DGTGQLLLPL
SDARKLTFRG LRKQITMEEL VRSQVMDEAT ALQLREGLTS IEEVTKNLQK FLEGTSCIAG
VFVDATKERL SVYQAMKKGI IRPGTAFELL EAQAATGYVI DPIKGLKLTV EEAVRMGIVG
PEFKDKLLSA ERAVTGYKDP YSGKLISLFQ AMKKGLILKD HGIRLLEAQI ATGGIIDPEE
SHRLPVEVAY KRGLFDEEMN EILTDPSDDT KGFFDPNTEE NLTYLQLMER CITDPQTGLC
LLPLKEKKRE RKTSSKSSVR KRRVVIVDPE TGKEMSVYEA YRKGLIDHQT YLELSEQECE
WEEITISSSD GVVKSMIIDR RSGRQYDIDD AIAKNLIDRS ALDQYRAGTL SITEFADMLS
GNAGGFRSRS SSVGSSSSYP ISPAVSRTQL ASWSDPTEET GPVAGILDTE TLEKVSITEA
MHRNLVDNIT GQRLLEAQAC TGGIIDPSTG ERFPVTDAVN KGLVDKIMVD RINLAQKAFC
GFEDPRTKTK MSAAQALKKG WLYYEAGQRF LEVQYLTGGL IEPDTPGRVP LDEALQRGTV
DARTAQKLRD VGAYSKYLTC PKTKLKISYK DALDRSMVEE GTGLRLLEAA AQSTKGYYSP
YSVSGSGSTA GSRTGSRTGS RAGSRRGSFD ATGSGFSMTF SSSSYSSSGY GRRYASGSSA
SLGGPESAVA *

speed

0.95 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999177982111837 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:144996029A>GN/A show variant in all transcripts IGV

HGNC symbol

PLEC

Ensembl transcript ID

ENST00000322810

Genbank transcript ID

NM_201380

UniProt peptide

Q15149

alteration type

single base exchange

alteration region

CDS

DNA changes

c.8371T>C
cDNA.8541T>C
g.54874T>C

AA changes

S2791P Score: 74 explain score(s)

position(s) of altered AA
if AA alteration in CDS

2791

frameshift

known variant

Reference ID: rs7833924

database	homozygous (G/G)	heterozygous	allele carriers
1000G	736	865	1601
ExAC	10289	12189	22478

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.03	0.983
	0.621	0.98
(flanking)	0.034	0.978

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	54876	wt: 0.7442 / mu: 0.7665 (marginal change - not scored)	wt: GTGTCAGCTCAGAGG mu: GTGCCAGCTCAGAGG	GTCA\|gctc
Donor marginally increased	54865	wt: 0.9267 / mu: 0.9722 (marginal change - not scored)	wt: TGCGGCGGAAGGTGT mu: TGCGGCGGAAGGTGC	CGGC\|ggaa
Donor gained	54878	0.51	mu: GCCAGCTCAGAGGCT	CAGC\|tcag

distance from splice site

535

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

2791

mutated

not conserved

2791

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000000388

2791

Fcatus

not conserved

ENSFCAG00000001046

3113

Mmusculus

not conserved

ENSMUSG00000022565

2799

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000003715

2794

Drerio

not conserved

ENSDARG00000021987

2669

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
2756	4684	REGION	Globular 2.	lost
2814	2814	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2826	2863	REPEAT	Plectin 1.	might get lost (downstream of altered splice site)
2841	2841	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2864	2901	REPEAT	Plectin 2.	might get lost (downstream of altered splice site)
2902	2939	REPEAT	Plectin 3.	might get lost (downstream of altered splice site)
2940	2977	REPEAT	Plectin 4.	might get lost (downstream of altered splice site)
2981	3015	REPEAT	Plectin 5.	might get lost (downstream of altered splice site)
3027	3027	CONFLICT	K -> E (in Ref. 2; AAB05427/AAB05428).	might get lost (downstream of altered splice site)
3033	3033	MOD_RES	Phosphotyrosine (By similarity).	might get lost (downstream of altered splice site)
3091	3091	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
3116	3153	REPEAT	Plectin 6.	might get lost (downstream of altered splice site)
3154	3191	REPEAT	Plectin 7.	might get lost (downstream of altered splice site)
3192	3229	REPEAT	Plectin 8.	might get lost (downstream of altered splice site)
3230	3267	REPEAT	Plectin 9.	might get lost (downstream of altered splice site)
3268	3305	REPEAT	Plectin 10.	might get lost (downstream of altered splice site)
3306	3343	REPEAT	Plectin 11.	might get lost (downstream of altered splice site)
3310	3310	CONFLICT	A -> E (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3361	3361	CONFLICT	L -> F (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3362	3362	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
3408	3408	CONFLICT	L -> F (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3420	3420	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
3447	3447	CONFLICT	A -> S (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3485	3522	REPEAT	Plectin 12.	might get lost (downstream of altered splice site)
3523	3560	REPEAT	Plectin 13.	might get lost (downstream of altered splice site)
3531	3531	CONFLICT	A -> G (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3561	3598	REPEAT	Plectin 14.	might get lost (downstream of altered splice site)
3580	3580	CONFLICT	S -> R (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3589	3589	CONFLICT	Q -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3596	3596	CONFLICT	Q -> E (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3599	3636	REPEAT	Plectin 15.	might get lost (downstream of altered splice site)
3616	3616	CONFLICT	H -> N (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3640	3674	REPEAT	Plectin 16.	might get lost (downstream of altered splice site)
3686	3686	CONFLICT	A -> V (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3786	3786	CONFLICT	A -> G (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3808	3808	CONFLICT	R -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3816	3816	CONFLICT	A -> G (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3820	3857	REPEAT	Plectin 17.	might get lost (downstream of altered splice site)
3821	3821	CONFLICT	C -> F (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3858	3895	REPEAT	Plectin 18.	might get lost (downstream of altered splice site)
3896	3933	REPEAT	Plectin 19.	might get lost (downstream of altered splice site)
3915	3915	CONFLICT	Q -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
3934	3971	REPEAT	Plectin 20.	might get lost (downstream of altered splice site)
3975	4008	REPEAT	Plectin 21.	might get lost (downstream of altered splice site)
3999	3999	CONFLICT	R -> K (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
4007	4007	CONFLICT	T -> S (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
4030	4030	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4063	4100	REPEAT	Plectin 22.	might get lost (downstream of altered splice site)
4101	4138	REPEAT	Plectin 23.	might get lost (downstream of altered splice site)
4139	4176	REPEAT	Plectin 24.	might get lost (downstream of altered splice site)
4155	4155	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4177	4214	REPEAT	Plectin 25.	might get lost (downstream of altered splice site)
4218	4252	REPEAT	Plectin 26.	might get lost (downstream of altered splice site)
4250	4300	REGION	Binding to intermediate filaments (By similarity).	might get lost (downstream of altered splice site)
4265	4305	REPEAT	Plectin 27.	might get lost (downstream of altered splice site)
4319	4356	REPEAT	Plectin 28.	might get lost (downstream of altered splice site)
4382	4382	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4384	4384	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4385	4385	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4386	4386	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4389	4389	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4390	4390	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4391	4391	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
4392	4392	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4393	4393	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4396	4396	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4400	4400	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4402	4402	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4408	4445	REPEAT	Plectin 29.	might get lost (downstream of altered splice site)
4411	4411	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4446	4483	REPEAT	Plectin 30.	might get lost (downstream of altered splice site)
4467	4467	CONFLICT	F -> L (in Ref. 1; CAA91196).	might get lost (downstream of altered splice site)
4484	4521	REPEAT	Plectin 31.	might get lost (downstream of altered splice site)
4522	4559	REPEAT	Plectin 32.	might get lost (downstream of altered splice site)
4539	4539	MOD_RES	Phosphothreonine; by CDK1 (By similarity).	might get lost (downstream of altered splice site)
4560	4597	REPEAT	Plectin 33.	might get lost (downstream of altered splice site)
4611	4611	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4613	4613	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4615	4615	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
4618	4618	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4620	4620	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4622	4622	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4623	4623	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4625	4640	REGION	4 X 4 AA tandem repeats of G-S-R-X.	might get lost (downstream of altered splice site)
4626	4626	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4628	4628	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
4642	4642	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4658	4658	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
4675	4675	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

14055 / 14055

position (AA) of stopcodon in wt / mu AA sequence

4685 / 4685

position of stopcodon in wt / mu cDNA

14225 / 14225

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

171 / 171

chromosome

strand

-1

last intron/exon boundary

8007

theoretical NMD boundary in CDS

7786

length of CDS

14055

coding sequence (CDS) position

8371

cDNA position
(for ins/del: last normal base / first normal base)

8541

gDNA position
(for ins/del: last normal base / first normal base)

54874

chromosomal position
(for ins/del: last normal base / first normal base)

144996029

original gDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGTCAGCTCAGAGGCTGCAGGAG

altered gDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGCCAGCTCAGAGGCTGCAGGAG

original cDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGTCAGCTCAGAGGCTGCAGGAG

altered cDNA sequence snippet

ATGGCCTGCGGCGGAAGGTGCCAGCTCAGAGGCTGCAGGAG

wildtype AA sequence

MVAGMLMPRD QLRAIYEVLF REGVMVAKKD RRPRSLHPHV PGVTNLQVMR AMASLRARGL
VRETFAWCHF YWYLTNEGIA HLRQYLHLPP EIVPASLQRV RRPVAMVMPA RRTPHVQAVQ
GPLGSPPKRG PLPTEEQRVY RRKELEEVSP ETPVVPATTQ RTLARPGPEP APATDERDRV
QKKTFTKWVN KHLIKAQRHI SDLYEDLRDG HNLISLLEVL SGDSLPREKG RMRFHKLQNV
QIALDYLRHR QVKLVNIRND DIADGNPKLT LGLIWTIILH FQISDIQVSG QSEDMTAKEK
LLLWSQRMVE GYQGLRCDNF TSSWRDGRLF NAIIHRHKPL LIDMNKVYRQ TNLENLDQAF
SVAERDLGVT RLLDPEDVDV PQPDEKSIIT YVSSLYDAMP RVPDVQDGVR ANELQLRWQE
YRELVLLLLQ WMRHHTAAFE ERRFPSSFEE IEILWSQFLK FKEMELPAKE ADKNRSKGIY
QSLEGAVQAG QLKVPPGYHP LDVEKEWGKL HVAILEREKQ LRSEFERLEC LQRIVTKLQM
EAGLCEEQLN QADALLQSDV RLLAAGKVPQ RAGEVERDLD KADSMIRLLF NDVQTLKDGR
HPQGEQMYRR VYRLHERLVA IRTEYNLRLK AGVAAPATQV AQVTLQSVQR RPELEDSTLR
YLQDLLAWVE ENQHRVDGAE WGVDLPSVEA QLGSHRGLHQ SIEEFRAKIE RARSDEGQLS
PATRGAYRDC LGRLDLQYAK LLNSSKARLR SLESLHSFVA AATKELMWLN EKEEEEVGFD
WSDRNTNMTA KKESYSALMR ELELKEKKIK ELQNAGDRLL REDHPARPTV ESFQAALQTQ
WSWMLQLCCC IEAHLKENAA YFQFFSDVRE AEGQLQKLQE ALRRKYSCDR SATVTRLEDL
LQDAQDEKEQ LNEYKGHLSG LAKRAKAVVQ LKPRHPAHPM RGRLPLLAVC DYKQVEVTVH
KGDECQLVGP AQPSHWKVLS SSGSEAAVPS VCFLVPPPNQ EAQEAVTRLE AQHQALVTLW
HQLHVDMKSL LAWQSLRRDV QLIRSWSLAT FRTLKPEEQR QALHSLELHY QAFLRDSQDA
GGFGPEDRLM AEREYGSCSH HYQQLLQSLE QGAQEESRCQ RCISELKDIR LQLEACETRT
VHRLRLPLDK EPARECAQRI AEQQKAQAEV EGLGKGVARL SAEAEKVLAL PEPSPAAPTL
RSELELTLGK LEQVRSLSAI YLEKLKTISL VIRGTQGAEE VLRAHEEQLK EAQAVPATLP
ELEATKASLK KLRAQAEAQQ PTFDALRDEL RGAQEVGERL QQRHGERDVE VERWRERVAQ
LLERWQAVLA QTDVRQRELE QLGRQLRYYR ESADPLGAWL QDARRRQEQI QAMPLADSQA
VREQLRQEQA LLEEIERHGE KVEECQRFAK QYINAIKDYE LQLVTYKAQL EPVASPAKKP
KVQSGSESVI QEYVDLRTHY SELTTLTSQY IKFISETLRR MEEEERLAEQ QRAEERERLA
EVEAALEKQR QLAEAHAQAK AQAEREAKEL QQRMQEEVVR REEAAVDAQQ QKRSIQEELQ
QLRQSSEAEI QAKARQAEAA ERSRLRIEEE IRVVRLQLEA TERQRGGAEG ELQALRARAE
EAEAQKRQAQ EEAERLRRQV QDESQRKRQA EVELASRVKA EAEAAREKQR ALQALEELRL
QAEEAERRLR QAEVERARQV QVALETAQRS AEAELQSKRA SFAEKTAQLE RSLQEEHVAV
AQLREEAERR AQQQAEAERA REEAERELER WQLKANEALR LRLQAEEVAQ QKSLAQAEAE
KQKEEAEREA RRRGKAEEQA VRQRELAEQE LEKQRQLAEG TAQQRLAAEQ ELIRLRAETE
QGEQQRQLLE EELARLQREA AAATQKRQEL EAELAKVRAE MEVLLASKAR AEEESRSTSE
KSKQRLEAEA GRFRELAEEA ARLRALAEEA KRQRQLAEED AARQRAEAER VLAEKLAAIG
EATRLKTEAE IALKEKEAEN ERLRRLAEDE AFQRRRLEEQ AAQHKADIEE RLAQLRKASD
SELERQKGLV EDTLRQRRQV EEEILALKAS FEKAAAGKAE LELELGRIRS NAEDTLRSKE
QAELEAARQR QLAAEEERRR REAEERVQKS LAAEEEAARQ RKAALEEVER LKAKVEEARR
LRERAEQESA RQLQLAQEAA QKRLQAEEKA HAFAVQQKEQ ELQQTLQQEQ SVLDQLRGEA
EAARRAAEEA EEARVQAERE AAQSRRQVEE AERLKQSAEE QAQARAQAQA AAEKLRKEAE
QEAARRAQAE QAALRQKQAA DAEMEKHKKF AEQTLRQKAQ VEQELTTLRL QLEETDHQKN
LLDEELQRLK AEATEAARQR SQVEEELFSV RVQMEELSKL KARIEAENRA LILRDKDNTQ
RFLQEEAEKM KQVAEEAARL SVAAQEAARL RQLAEEDLAQ QRALAEKMLK EKMQAVQEAT
RLKAEAELLQ QQKELAQEQA RRLQEDKEQM AQQLAEETQG FQRTLEAERQ RQLEMSAEAE
RLKLRVAEMS RAQARAEEDA QRFRKQAEEI GEKLHRTELA TQEKVTLVQT LEIQRQQSDH
DAERLREAIA ELEREKEKLQ QEAKLLQLKS EEMQTVQQEQ LLQETQALQQ SFLSEKDSLL
QRERFIEQEK AKLEQLFQDE VAKAQQLREE QQRQQQQMEQ ERQRLVASME EARRRQHEAE
EGVRRKQEEL QQLEQQRRQQ EELLAEENQR LREQLQLLEE QHRAALAHSE EVTASQVAAT
KTLPNGRDAL DGPAAEAEPE HSFDGLRRKV SAQRLQEAGI LSAEELQRLA QGHTTVDELA
RREDVRHYLQ GRSSIAGLLL KATNEKLSVY AALQRQLLSP GTALILLEAQ AASGFLLDPV
RNRRLTVNEA VKEGVVGPEL HHKLLSAERA VTGYKDPYTG QQISLFQAMQ KGLIVREHGI
RLLEAQIATG GVIDPVHSHR VPVDVAYRRG YFDEEMNRVL ADPSDDTKGF FDPNTHENLT
YLQLLERCVE DPETGLCLLP LTDKAAKGGE LVYTDSEARD VFEKATVSAP FGKFQGKTVT
IWEIINSEYF TAEQRRDLLR QFRTGRITVE KIIKIIITVV EEQEQKGRLC FEGLRSLVPA
AELLESRVID RELYQQLQRG ERSVRDVAEV DTVRRALRGA NVIAGVWLEE AGQKLSIYNA
LKKDLLPSDM AVALLEAQAG TGHIIDPATS ARLTVDEAVR AGLVGPEFHE KLLSAEKAVT
GYRDPYTGQS VSLFQALKKG LIPREQGLRL LDAQLSTGGI VDPSKSHRVP LDVACARGCL
DEETSRALSA PRADAKAYSD PSTGEPATYG ELQQRCRPDQ LTGLSLLPLS EKAARARQEE
LYSELQARET FEKTPVEVPV GGFKGRTVTV WELISSEYFT AEQRQELLRQ FRTGKVTVEK
VIKILITIVE EVETLRQERL SFSGLRAPVP ASELLASGVL SRAQFEQLKD GKTTVKDLSE
LGSVRTLLQG SGCLAGIYLE DTKEKVSIYE AMRRGLLRAT TAALLLEAQA ATGFLVDPVR
NQRLYVHEAV KAGVVGPELH EQLLSAEKAV TGYRDPYSGS TISLFQAMQK GLVLRQHGIR
LLEAQIATGG IIDPVHSHRV PVDVAYQRGY FSEEMNRVLA DPSDDTKGFF DPNTHENLTY
RQLLERCVED PETGLRLLPL KGAEKAEVVE TTQVYTEEET RRAFEETQID IPGGGSHGGS
TMSLWEVMQS DLIPEEQRAQ LMADFQAGRV TKERMIIIII EIIEKTEIIR QQGLASYDYV
RRRLTAEDLF EARIISLETY NLLREGTRSL REALEAESAW CYLYGTGSVA GVYLPGSRQT
LSIYQALKKG LLSAEVARLL LEAQAATGFL LDPVKGERLT VDEAVRKGLV GPELHDRLLS
AERAVTGYRD PYTEQTISLF QAMKKELIPT EEALRLLDAQ LATGGIVDPR LGFHLPLEVA
YQRGYLNKDT HDQLSEPSEV RSYVDPSTDE RLSYTQLLRR CRRDDGTGQL LLPLSDARKL
TFRGLRKQIT MEELVRSQVM DEATALQLRE GLTSIEEVTK NLQKFLEGTS CIAGVFVDAT
KERLSVYQAM KKGIIRPGTA FELLEAQAAT GYVIDPIKGL KLTVEEAVRM GIVGPEFKDK
LLSAERAVTG YKDPYSGKLI SLFQAMKKGL ILKDHGIRLL EAQIATGGII DPEESHRLPV
EVAYKRGLFD EEMNEILTDP SDDTKGFFDP NTEENLTYLQ LMERCITDPQ TGLCLLPLKE
KKRERKTSSK SSVRKRRVVI VDPETGKEMS VYEAYRKGLI DHQTYLELSE QECEWEEITI
SSSDGVVKSM IIDRRSGRQY DIDDAIAKNL IDRSALDQYR AGTLSITEFA DMLSGNAGGF
RSRSSSVGSS SSYPISPAVS RTQLASWSDP TEETGPVAGI LDTETLEKVS ITEAMHRNLV
DNITGQRLLE AQACTGGIID PSTGERFPVT DAVNKGLVDK IMVDRINLAQ KAFCGFEDPR
TKTKMSAAQA LKKGWLYYEA GQRFLEVQYL TGGLIEPDTP GRVPLDEALQ RGTVDARTAQ
KLRDVGAYSK YLTCPKTKLK ISYKDALDRS MVEEGTGLRL LEAAAQSTKG YYSPYSVSGS
GSTAGSRTGS RTGSRAGSRR GSFDATGSGF SMTFSSSSYS SSGYGRRYAS GSSASLGGPE
SAVA*

mutated AA sequence

MVAGMLMPRD QLRAIYEVLF REGVMVAKKD RRPRSLHPHV PGVTNLQVMR AMASLRARGL
VRETFAWCHF YWYLTNEGIA HLRQYLHLPP EIVPASLQRV RRPVAMVMPA RRTPHVQAVQ
GPLGSPPKRG PLPTEEQRVY RRKELEEVSP ETPVVPATTQ RTLARPGPEP APATDERDRV
QKKTFTKWVN KHLIKAQRHI SDLYEDLRDG HNLISLLEVL SGDSLPREKG RMRFHKLQNV
QIALDYLRHR QVKLVNIRND DIADGNPKLT LGLIWTIILH FQISDIQVSG QSEDMTAKEK
LLLWSQRMVE GYQGLRCDNF TSSWRDGRLF NAIIHRHKPL LIDMNKVYRQ TNLENLDQAF
SVAERDLGVT RLLDPEDVDV PQPDEKSIIT YVSSLYDAMP RVPDVQDGVR ANELQLRWQE
YRELVLLLLQ WMRHHTAAFE ERRFPSSFEE IEILWSQFLK FKEMELPAKE ADKNRSKGIY
QSLEGAVQAG QLKVPPGYHP LDVEKEWGKL HVAILEREKQ LRSEFERLEC LQRIVTKLQM
EAGLCEEQLN QADALLQSDV RLLAAGKVPQ RAGEVERDLD KADSMIRLLF NDVQTLKDGR
HPQGEQMYRR VYRLHERLVA IRTEYNLRLK AGVAAPATQV AQVTLQSVQR RPELEDSTLR
YLQDLLAWVE ENQHRVDGAE WGVDLPSVEA QLGSHRGLHQ SIEEFRAKIE RARSDEGQLS
PATRGAYRDC LGRLDLQYAK LLNSSKARLR SLESLHSFVA AATKELMWLN EKEEEEVGFD
WSDRNTNMTA KKESYSALMR ELELKEKKIK ELQNAGDRLL REDHPARPTV ESFQAALQTQ
WSWMLQLCCC IEAHLKENAA YFQFFSDVRE AEGQLQKLQE ALRRKYSCDR SATVTRLEDL
LQDAQDEKEQ LNEYKGHLSG LAKRAKAVVQ LKPRHPAHPM RGRLPLLAVC DYKQVEVTVH
KGDECQLVGP AQPSHWKVLS SSGSEAAVPS VCFLVPPPNQ EAQEAVTRLE AQHQALVTLW
HQLHVDMKSL LAWQSLRRDV QLIRSWSLAT FRTLKPEEQR QALHSLELHY QAFLRDSQDA
GGFGPEDRLM AEREYGSCSH HYQQLLQSLE QGAQEESRCQ RCISELKDIR LQLEACETRT
VHRLRLPLDK EPARECAQRI AEQQKAQAEV EGLGKGVARL SAEAEKVLAL PEPSPAAPTL
RSELELTLGK LEQVRSLSAI YLEKLKTISL VIRGTQGAEE VLRAHEEQLK EAQAVPATLP
ELEATKASLK KLRAQAEAQQ PTFDALRDEL RGAQEVGERL QQRHGERDVE VERWRERVAQ
LLERWQAVLA QTDVRQRELE QLGRQLRYYR ESADPLGAWL QDARRRQEQI QAMPLADSQA
VREQLRQEQA LLEEIERHGE KVEECQRFAK QYINAIKDYE LQLVTYKAQL EPVASPAKKP
KVQSGSESVI QEYVDLRTHY SELTTLTSQY IKFISETLRR MEEEERLAEQ QRAEERERLA
EVEAALEKQR QLAEAHAQAK AQAEREAKEL QQRMQEEVVR REEAAVDAQQ QKRSIQEELQ
QLRQSSEAEI QAKARQAEAA ERSRLRIEEE IRVVRLQLEA TERQRGGAEG ELQALRARAE
EAEAQKRQAQ EEAERLRRQV QDESQRKRQA EVELASRVKA EAEAAREKQR ALQALEELRL
QAEEAERRLR QAEVERARQV QVALETAQRS AEAELQSKRA SFAEKTAQLE RSLQEEHVAV
AQLREEAERR AQQQAEAERA REEAERELER WQLKANEALR LRLQAEEVAQ QKSLAQAEAE
KQKEEAEREA RRRGKAEEQA VRQRELAEQE LEKQRQLAEG TAQQRLAAEQ ELIRLRAETE
QGEQQRQLLE EELARLQREA AAATQKRQEL EAELAKVRAE MEVLLASKAR AEEESRSTSE
KSKQRLEAEA GRFRELAEEA ARLRALAEEA KRQRQLAEED AARQRAEAER VLAEKLAAIG
EATRLKTEAE IALKEKEAEN ERLRRLAEDE AFQRRRLEEQ AAQHKADIEE RLAQLRKASD
SELERQKGLV EDTLRQRRQV EEEILALKAS FEKAAAGKAE LELELGRIRS NAEDTLRSKE
QAELEAARQR QLAAEEERRR REAEERVQKS LAAEEEAARQ RKAALEEVER LKAKVEEARR
LRERAEQESA RQLQLAQEAA QKRLQAEEKA HAFAVQQKEQ ELQQTLQQEQ SVLDQLRGEA
EAARRAAEEA EEARVQAERE AAQSRRQVEE AERLKQSAEE QAQARAQAQA AAEKLRKEAE
QEAARRAQAE QAALRQKQAA DAEMEKHKKF AEQTLRQKAQ VEQELTTLRL QLEETDHQKN
LLDEELQRLK AEATEAARQR SQVEEELFSV RVQMEELSKL KARIEAENRA LILRDKDNTQ
RFLQEEAEKM KQVAEEAARL SVAAQEAARL RQLAEEDLAQ QRALAEKMLK EKMQAVQEAT
RLKAEAELLQ QQKELAQEQA RRLQEDKEQM AQQLAEETQG FQRTLEAERQ RQLEMSAEAE
RLKLRVAEMS RAQARAEEDA QRFRKQAEEI GEKLHRTELA TQEKVTLVQT LEIQRQQSDH
DAERLREAIA ELEREKEKLQ QEAKLLQLKS EEMQTVQQEQ LLQETQALQQ SFLSEKDSLL
QRERFIEQEK AKLEQLFQDE VAKAQQLREE QQRQQQQMEQ ERQRLVASME EARRRQHEAE
EGVRRKQEEL QQLEQQRRQQ EELLAEENQR LREQLQLLEE QHRAALAHSE EVTASQVAAT
KTLPNGRDAL DGPAAEAEPE HSFDGLRRKV PAQRLQEAGI LSAEELQRLA QGHTTVDELA
RREDVRHYLQ GRSSIAGLLL KATNEKLSVY AALQRQLLSP GTALILLEAQ AASGFLLDPV
RNRRLTVNEA VKEGVVGPEL HHKLLSAERA VTGYKDPYTG QQISLFQAMQ KGLIVREHGI
RLLEAQIATG GVIDPVHSHR VPVDVAYRRG YFDEEMNRVL ADPSDDTKGF FDPNTHENLT
YLQLLERCVE DPETGLCLLP LTDKAAKGGE LVYTDSEARD VFEKATVSAP FGKFQGKTVT
IWEIINSEYF TAEQRRDLLR QFRTGRITVE KIIKIIITVV EEQEQKGRLC FEGLRSLVPA
AELLESRVID RELYQQLQRG ERSVRDVAEV DTVRRALRGA NVIAGVWLEE AGQKLSIYNA
LKKDLLPSDM AVALLEAQAG TGHIIDPATS ARLTVDEAVR AGLVGPEFHE KLLSAEKAVT
GYRDPYTGQS VSLFQALKKG LIPREQGLRL LDAQLSTGGI VDPSKSHRVP LDVACARGCL
DEETSRALSA PRADAKAYSD PSTGEPATYG ELQQRCRPDQ LTGLSLLPLS EKAARARQEE
LYSELQARET FEKTPVEVPV GGFKGRTVTV WELISSEYFT AEQRQELLRQ FRTGKVTVEK
VIKILITIVE EVETLRQERL SFSGLRAPVP ASELLASGVL SRAQFEQLKD GKTTVKDLSE
LGSVRTLLQG SGCLAGIYLE DTKEKVSIYE AMRRGLLRAT TAALLLEAQA ATGFLVDPVR
NQRLYVHEAV KAGVVGPELH EQLLSAEKAV TGYRDPYSGS TISLFQAMQK GLVLRQHGIR
LLEAQIATGG IIDPVHSHRV PVDVAYQRGY FSEEMNRVLA DPSDDTKGFF DPNTHENLTY
RQLLERCVED PETGLRLLPL KGAEKAEVVE TTQVYTEEET RRAFEETQID IPGGGSHGGS
TMSLWEVMQS DLIPEEQRAQ LMADFQAGRV TKERMIIIII EIIEKTEIIR QQGLASYDYV
RRRLTAEDLF EARIISLETY NLLREGTRSL REALEAESAW CYLYGTGSVA GVYLPGSRQT
LSIYQALKKG LLSAEVARLL LEAQAATGFL LDPVKGERLT VDEAVRKGLV GPELHDRLLS
AERAVTGYRD PYTEQTISLF QAMKKELIPT EEALRLLDAQ LATGGIVDPR LGFHLPLEVA
YQRGYLNKDT HDQLSEPSEV RSYVDPSTDE RLSYTQLLRR CRRDDGTGQL LLPLSDARKL
TFRGLRKQIT MEELVRSQVM DEATALQLRE GLTSIEEVTK NLQKFLEGTS CIAGVFVDAT
KERLSVYQAM KKGIIRPGTA FELLEAQAAT GYVIDPIKGL KLTVEEAVRM GIVGPEFKDK
LLSAERAVTG YKDPYSGKLI SLFQAMKKGL ILKDHGIRLL EAQIATGGII DPEESHRLPV
EVAYKRGLFD EEMNEILTDP SDDTKGFFDP NTEENLTYLQ LMERCITDPQ TGLCLLPLKE
KKRERKTSSK SSVRKRRVVI VDPETGKEMS VYEAYRKGLI DHQTYLELSE QECEWEEITI
SSSDGVVKSM IIDRRSGRQY DIDDAIAKNL IDRSALDQYR AGTLSITEFA DMLSGNAGGF
RSRSSSVGSS SSYPISPAVS RTQLASWSDP TEETGPVAGI LDTETLEKVS ITEAMHRNLV
DNITGQRLLE AQACTGGIID PSTGERFPVT DAVNKGLVDK IMVDRINLAQ KAFCGFEDPR
TKTKMSAAQA LKKGWLYYEA GQRFLEVQYL TGGLIEPDTP GRVPLDEALQ RGTVDARTAQ
KLRDVGAYSK YLTCPKTKLK ISYKDALDRS MVEEGTGLRL LEAAAQSTKG YYSPYSVSGS
GSTAGSRTGS RTGSRAGSRR GSFDATGSGF SMTFSSSSYS SSGYGRRYAS GSSASLGGPE
SAVA*

speed

1.04 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems