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 2 transcript(s)...
Querying Taster for transcript #1: ENST00000379802
Querying Taster for transcript #2: ENST00000418664
MT speed 0 s - this script 2.72821 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
DSP	disease_causing	0.999999888690542	simple_aae		affected		R1767C	single base exchange	rs28931610		show file
DSP	disease_causing	0.999999995514482	simple_aae		affected		R2366C	single base exchange	rs28931610		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999888690542 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM020675)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:7584591C>TN/A show variant in all transcripts IGV

HGNC symbol

DSP

Ensembl transcript ID

ENST00000418664

Genbank transcript ID

NM_001008844

UniProt peptide

P15924

alteration type

single base exchange

alteration region

CDS

DNA changes

c.5299C>T
cDNA.5598C>T
g.42784C>T

AA changes

R1767C Score: 180 explain score(s)

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

1767

frameshift

known variant

Reference ID: rs28931610
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM020675)

known disease mutation at this position, please check HGMD for details (HGMD ID CM020675)
known disease mutation at this position, please check HGMD for details (HGMD ID CM020675)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.274	0.997
	3.323	1
(flanking)	6.191	1

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
Acc marginally increased	42792	wt: 0.9358 / mu: 0.9582 (marginal change - not scored)	wt: GGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGG mu: GGCCACGGTATTTGCTTATTAGAAGCACAGATCGCAACCGG	atta\|GAAG
Acc increased	42793	wt: 0.29 / mu: 0.51	wt: GCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGG mu: GCCACGGTATTTGCTTATTAGAAGCACAGATCGCAACCGGG	ttag\|AAGC

distance from splice site

1717

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1767

mutated

not conserved

1767

Ptroglodytes

all identical

ENSPTRG00000017702

2366

Mmulatta

all identical

ENSMMUG00000014784

2366

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000054889

2378

Ggallus

all identical

ENSGALG00000012790

2370

Trubripes

no homologue

Drerio

all identical

ENSDARG00000022309

1748

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1018	1945	COILED	Potential.	lost
1057	1945	REGION	Central fibrous rod domain.	lost
1946	2871	REGION	Globular 2.	might get lost (downstream of altered splice site)
1960	2208	REGION	4.5 X 38 AA tandem repeats (Domain A).	might get lost (downstream of altered splice site)
2009	2045	REPEAT	Plectin 1.	might get lost (downstream of altered splice site)
2024	2024	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2046	2083	REPEAT	Plectin 2.	might get lost (downstream of altered splice site)
2084	2121	REPEAT	Plectin 3.	might get lost (downstream of altered splice site)
2122	2159	REPEAT	Plectin 4.	might get lost (downstream of altered splice site)
2163	2197	REPEAT	Plectin 5.	might get lost (downstream of altered splice site)
2198	2233	REPEAT	Plectin 6.	might get lost (downstream of altered splice site)
2209	2209	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2213	2217	STRAND		might get lost (downstream of altered splice site)
2219	2224	HELIX		might get lost (downstream of altered splice site)
2230	2237	HELIX		might get lost (downstream of altered splice site)
2244	2446	REGION	4.5 X 38 AA tandem repeats (Domain B).	might get lost (downstream of altered splice site)
2246	2249	HELIX		might get lost (downstream of altered splice site)
2251	2254	HELIX		might get lost (downstream of altered splice site)
2251	2288	REPEAT	Plectin 7.	might get lost (downstream of altered splice site)
2260	2265	STRAND		might get lost (downstream of altered splice site)
2266	2269	TURN		might get lost (downstream of altered splice site)
2270	2273	STRAND		might get lost (downstream of altered splice site)
2274	2278	HELIX		might get lost (downstream of altered splice site)
2275	2275	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
2279	2283	STRAND		might get lost (downstream of altered splice site)
2285	2296	HELIX		might get lost (downstream of altered splice site)
2289	2326	REPEAT	Plectin 8.	might get lost (downstream of altered splice site)
2301	2303	STRAND		might get lost (downstream of altered splice site)
2304	2307	TURN		might get lost (downstream of altered splice site)
2308	2310	STRAND		might get lost (downstream of altered splice site)
2312	2317	HELIX		might get lost (downstream of altered splice site)
2323	2333	TURN		might get lost (downstream of altered splice site)
2327	2364	REPEAT	Plectin 9.	might get lost (downstream of altered splice site)
2334	2337	HELIX		might get lost (downstream of altered splice site)
2342	2344	TURN		might get lost (downstream of altered splice site)
2350	2354	HELIX		might get lost (downstream of altered splice site)
2355	2357	TURN		might get lost (downstream of altered splice site)
2361	2372	HELIX		might get lost (downstream of altered splice site)
2365	2402	REPEAT	Plectin 10.	might get lost (downstream of altered splice site)
2373	2375	TURN		might get lost (downstream of altered splice site)
2376	2378	STRAND		might get lost (downstream of altered splice site)
2380	2382	TURN		might get lost (downstream of altered splice site)
2384	2386	STRAND		might get lost (downstream of altered splice site)
2388	2393	HELIX		might get lost (downstream of altered splice site)
2399	2406	HELIX		might get lost (downstream of altered splice site)
2406	2440	REPEAT	Plectin 11.	might get lost (downstream of altered splice site)
2414	2417	STRAND		might get lost (downstream of altered splice site)
2418	2421	TURN		might get lost (downstream of altered splice site)
2422	2424	STRAND		might get lost (downstream of altered splice site)
2426	2431	HELIX		might get lost (downstream of altered splice site)
2437	2439	TURN		might get lost (downstream of altered splice site)
2442	2446	STRAND		might get lost (downstream of altered splice site)
2456	2493	REPEAT	Plectin 12.	might get lost (downstream of altered splice site)
2480	2480	LIPID	Omega-hydroxyceramide glutamate ester (Potential).	might get lost (downstream of altered splice site)
2507	2544	REPEAT	Plectin 13.	might get lost (downstream of altered splice site)
2606	2606	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2609	2822	REGION	4.5 X 38 AA tandem repeats (Domain C).	might get lost (downstream of altered splice site)
2610	2647	REPEAT	Plectin 14.	might get lost (downstream of altered splice site)
2619	2624	STRAND		might get lost (downstream of altered splice site)
2625	2628	TURN		might get lost (downstream of altered splice site)
2629	2631	STRAND		might get lost (downstream of altered splice site)
2633	2638	HELIX		might get lost (downstream of altered splice site)
2644	2655	HELIX		might get lost (downstream of altered splice site)
2648	2685	REPEAT	Plectin 15.	might get lost (downstream of altered splice site)
2656	2658	TURN		might get lost (downstream of altered splice site)
2659	2661	STRAND		might get lost (downstream of altered splice site)
2663	2665	TURN		might get lost (downstream of altered splice site)
2671	2676	HELIX		might get lost (downstream of altered splice site)
2682	2696	HELIX		might get lost (downstream of altered splice site)
2687	2688	CONFLICT	RL -> SV (in Ref. 1; AAA85135 and 4; AAA35766).	might get lost (downstream of altered splice site)
2709	2714	HELIX		might get lost (downstream of altered splice site)
2720	2732	HELIX		might get lost (downstream of altered splice site)
2724	2761	REPEAT	Plectin 16.	might get lost (downstream of altered splice site)
2739	2741	HELIX		might get lost (downstream of altered splice site)
2747	2752	HELIX		might get lost (downstream of altered splice site)
2758	2765	HELIX		might get lost (downstream of altered splice site)
2762	2799	REPEAT	Plectin 17.	might get lost (downstream of altered splice site)
2767	2769	HELIX		might get lost (downstream of altered splice site)
2777	2779	TURN		might get lost (downstream of altered splice site)
2785	2791	HELIX		might get lost (downstream of altered splice site)
2796	2798	TURN		might get lost (downstream of altered splice site)
2801	2805	STRAND		might get lost (downstream of altered splice site)
2815	2815	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2820	2820	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2821	2821	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2824	2847	REGION	6 X 4 AA tandem repeats of G-S-R-[SR].	might get lost (downstream of altered splice site)
2825	2825	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2849	2849	MUTAGEN	S->G: Increases association with KRT5- KRT14, KRT8-KRT18 or VIM intermediate filaments.	might get lost (downstream of altered splice site)
2849	2849	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2853	2853	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2857	2857	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2868	2868	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

6819 / 6819

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

2273 / 2273

position of stopcodon in wt / mu cDNA

7118 / 7118

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

300 / 300

chromosome

strand

last intron/exon boundary

3882

theoretical NMD boundary in CDS

3532

length of CDS

6819

coding sequence (CDS) position

5299

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

5598

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

42784

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

7584591

original gDNA sequence snippet

TCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATC

altered gDNA sequence snippet

TCGAAAAGGGCCACGGTATTTGCTTATTAGAAGCACAGATC

original cDNA sequence snippet

TCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATC

altered cDNA sequence snippet

TCGAAAAGGGCCACGGTATTTGCTTATTAGAAGCACAGATC

wildtype AA sequence

MSCNGGSHPR INTLGRMIRA ESGPDLRYEV TSGGGGTSRM YYSRRGVITD QNSDGYCQTG
TMSRHQNQNT IQELLQNCSD CLMRAELIVQ PELKYGDGIQ LTRSRELDEC FAQANDQMEI
LDSLIREMRQ MGQPCDAYQK RLLQLQEQMR ALYKAISVPR VRRASSKGGG GYTCQSGSGW
DEFTKHVTSE CLGWMRQQRA EMDMVAWGVD LASVEQHINS HRGIHNSIGD YRWQLDKIKA
DLREKSAIYQ LEEEYENLLK ASFERMDHLR QLQNIIQATS REIMWINDCE EEELLYDWSD
KNTNIAQKQE AFSIRMSQLE VKEKELNKLK QESDQLVLNQ HPASDKIEAY MDTLQTQWSW
ILQITKCIDV HLKENAAYFQ FFEEAQSTEA YLKGLQDSIR KKYPCDKNMP LQHLLEQIKE
LEKEREKILE YKRQVQNLVN KSKKIVQLKP RNPDYRSNKP IILRALCDYK QDQKIVHKGD
ECILKDNNER SKWYVTGPGG VDMLVPSVGL IIPPPNPLAV DLSCKIEQYY EAILALWNQL
YINMKSLVSW HYCMIDIEKI RAMTIAKLKT MRQEDYMKTI ADLELHYQEF IRNSQGSEMF
GDDDKRKIQS QFTDAQKHYQ TLVIQLPGYP QHQTVTTTEI THHGTCQDVN HNKVIETNRE
NDKQETWMLM ELQKIRRQIE HCEGRMTLKN LPLADQGSSH HITVKINELK SVQNDSQAIA
EVLNQLKDML ANFRGSEKYC YLQNEVFGLF QKLENINGVT DGYLNSLCTV RALLQAILQT
EDMLKVYEAR LTEEETVCLD LDKVEAYRCG LKKIKNDLNL KKSLLATMKT ELQKAQQIHS
QTSQQYPLYD LDLGKFGEKV TQLTDRWQRI DKQIDFRLWD LEKQIKQLRN YRDNYQAFCK
WLYDAKRRQD SLESMKFGDS NTVMRFLNEQ KNLHSEISGK RDKSEEVQKI AELCANSIKD
YELQLASYTS GLETLLNIPI KRTMIQSPSG VILQEAADVH ARYIELLTRS GDYYRFLSEM
LKSLEDLKLK NTKIEVLEEE LRLARDANSE NCNKNKFLDQ NLQKYQAECS QFKAKLASLE
ELKRQAELDG KSAKQNLDKC YGQIKELNEK ITRLTYEIED EKRRRKSVED RFDQQKNDYD
QLQKARQCEK ENLGWQKLES EKAIKEKEYE IERLRVLLQE EGTRKREYEN ELAKASNRIQ
ESKNQCTQVV QERESLLVKI KVLEQDKARL QRLEDELNRA KSTLEAETRV KQRLECEKQQ
IQNDLNQWKT QYSRKEEAIR KIESEREKSE REKNSLRSEI ERLQAEIKRI EERCRRKLED
STRETQSQLE TERSRYQREI DKLRQRPYGS HRETQTECEW TVDTSKLVFD GLRKKVTAMQ
LYECQLIDKT TLDKLLKGKK SVEEVASEIQ PFLRGAGSIA GASASPKEKY SLVEAKRKKL
ISPESTVMLL EAQAATGGII DPHRNEKLTV DSAIARDLID FDDRQQIYAA EKAITGFDDP
FSGKTVSVSE AIKKNLIDRE TGMRLLEAQI ASGGVVDPVN SVFLPKDVAL ARGLIDRDLY
RSLNDPRDSQ KNFVDPVTKK KVSYVQLKER CRIEPHTGLL LLSVQKRSMS FQGIRQPVTV
TELVDSGILR PSTVNELESG QISYDEVGER IKDFLQGSSC IAGIYNETTK QKLGIYEAMK
IGLVRPGTAL ELLEAQAATG FIVDPVSNLR LPVEEAYKRG LVGIEFKEKL LSAERAVTGY
NDPETGNIIS LFQAMNKELI EKGHGIRLLE AQIATGGIID PKESHRLPVD IAYKRGYFNE
ELSEILSDPS DDTKGFFDPN TEENLTYLQL KERCIKDEET GLCLLPLKEK KKQVQTSQKN
TLRKRRVVIV DPETNKEMSV QEAYKKGLID YETFKELCEQ ECEWEEITIT GSDGSTRVVL
VDRKTGSQYD IQDAIDKGLV DRKFFDQYRS GSLSLTQFAD MISLKNGVGT SSSMGSGVSD
DVFSSSRHES VSKISTISSV RNLTIRSSSF SDTLEESSPI AAIFDTENLE KISITEGIER
GIVDSITGQR LLEAQACTGG IIHPTTGQKL SLQDAVSQGV IDQDMATRLK PAQKAFIGFE
GVKGKKKMSA AEAVKEKWLP YEAGQRFLEF QYLTGGLVDP EVHGRISTEE AIRKGFIDGR
AAQRLQDTSS YAKILTCPKT KLKISYKDAI NRSMVEDITG LRLLEAASVS SKGLPSPYNM
SSAPGSRSGS RSGSRSGSRS GSRSGSRRGS FDATGNSSYS YSYSFSSSSI GH*

mutated AA sequence

MSCNGGSHPR INTLGRMIRA ESGPDLRYEV TSGGGGTSRM YYSRRGVITD QNSDGYCQTG
TMSRHQNQNT IQELLQNCSD CLMRAELIVQ PELKYGDGIQ LTRSRELDEC FAQANDQMEI
LDSLIREMRQ MGQPCDAYQK RLLQLQEQMR ALYKAISVPR VRRASSKGGG GYTCQSGSGW
DEFTKHVTSE CLGWMRQQRA EMDMVAWGVD LASVEQHINS HRGIHNSIGD YRWQLDKIKA
DLREKSAIYQ LEEEYENLLK ASFERMDHLR QLQNIIQATS REIMWINDCE EEELLYDWSD
KNTNIAQKQE AFSIRMSQLE VKEKELNKLK QESDQLVLNQ HPASDKIEAY MDTLQTQWSW
ILQITKCIDV HLKENAAYFQ FFEEAQSTEA YLKGLQDSIR KKYPCDKNMP LQHLLEQIKE
LEKEREKILE YKRQVQNLVN KSKKIVQLKP RNPDYRSNKP IILRALCDYK QDQKIVHKGD
ECILKDNNER SKWYVTGPGG VDMLVPSVGL IIPPPNPLAV DLSCKIEQYY EAILALWNQL
YINMKSLVSW HYCMIDIEKI RAMTIAKLKT MRQEDYMKTI ADLELHYQEF IRNSQGSEMF
GDDDKRKIQS QFTDAQKHYQ TLVIQLPGYP QHQTVTTTEI THHGTCQDVN HNKVIETNRE
NDKQETWMLM ELQKIRRQIE HCEGRMTLKN LPLADQGSSH HITVKINELK SVQNDSQAIA
EVLNQLKDML ANFRGSEKYC YLQNEVFGLF QKLENINGVT DGYLNSLCTV RALLQAILQT
EDMLKVYEAR LTEEETVCLD LDKVEAYRCG LKKIKNDLNL KKSLLATMKT ELQKAQQIHS
QTSQQYPLYD LDLGKFGEKV TQLTDRWQRI DKQIDFRLWD LEKQIKQLRN YRDNYQAFCK
WLYDAKRRQD SLESMKFGDS NTVMRFLNEQ KNLHSEISGK RDKSEEVQKI AELCANSIKD
YELQLASYTS GLETLLNIPI KRTMIQSPSG VILQEAADVH ARYIELLTRS GDYYRFLSEM
LKSLEDLKLK NTKIEVLEEE LRLARDANSE NCNKNKFLDQ NLQKYQAECS QFKAKLASLE
ELKRQAELDG KSAKQNLDKC YGQIKELNEK ITRLTYEIED EKRRRKSVED RFDQQKNDYD
QLQKARQCEK ENLGWQKLES EKAIKEKEYE IERLRVLLQE EGTRKREYEN ELAKASNRIQ
ESKNQCTQVV QERESLLVKI KVLEQDKARL QRLEDELNRA KSTLEAETRV KQRLECEKQQ
IQNDLNQWKT QYSRKEEAIR KIESEREKSE REKNSLRSEI ERLQAEIKRI EERCRRKLED
STRETQSQLE TERSRYQREI DKLRQRPYGS HRETQTECEW TVDTSKLVFD GLRKKVTAMQ
LYECQLIDKT TLDKLLKGKK SVEEVASEIQ PFLRGAGSIA GASASPKEKY SLVEAKRKKL
ISPESTVMLL EAQAATGGII DPHRNEKLTV DSAIARDLID FDDRQQIYAA EKAITGFDDP
FSGKTVSVSE AIKKNLIDRE TGMRLLEAQI ASGGVVDPVN SVFLPKDVAL ARGLIDRDLY
RSLNDPRDSQ KNFVDPVTKK KVSYVQLKER CRIEPHTGLL LLSVQKRSMS FQGIRQPVTV
TELVDSGILR PSTVNELESG QISYDEVGER IKDFLQGSSC IAGIYNETTK QKLGIYEAMK
IGLVRPGTAL ELLEAQAATG FIVDPVSNLR LPVEEAYKRG LVGIEFKEKL LSAERAVTGY
NDPETGNIIS LFQAMNKELI EKGHGICLLE AQIATGGIID PKESHRLPVD IAYKRGYFNE
ELSEILSDPS DDTKGFFDPN TEENLTYLQL KERCIKDEET GLCLLPLKEK KKQVQTSQKN
TLRKRRVVIV DPETNKEMSV QEAYKKGLID YETFKELCEQ ECEWEEITIT GSDGSTRVVL
VDRKTGSQYD IQDAIDKGLV DRKFFDQYRS GSLSLTQFAD MISLKNGVGT SSSMGSGVSD
DVFSSSRHES VSKISTISSV RNLTIRSSSF SDTLEESSPI AAIFDTENLE KISITEGIER
GIVDSITGQR LLEAQACTGG IIHPTTGQKL SLQDAVSQGV IDQDMATRLK PAQKAFIGFE
GVKGKKKMSA AEAVKEKWLP YEAGQRFLEF QYLTGGLVDP EVHGRISTEE AIRKGFIDGR
AAQRLQDTSS YAKILTCPKT KLKISYKDAI NRSMVEDITG LRLLEAASVS SKGLPSPYNM
SSAPGSRSGS RSGSRSGSRS GSRSGSRRGS FDATGNSSYS YSYSFSSSSI GH*

speed

0.30 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

disease causing

Model: simple_aae, prob: 0.999999995514482 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM020675)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:7584591C>TN/A show variant in all transcripts IGV

HGNC symbol

DSP

Ensembl transcript ID

ENST00000379802

Genbank transcript ID

NM_004415

UniProt peptide

P15924

alteration type

single base exchange

alteration region

CDS

DNA changes

c.7096C>T
cDNA.7437C>T
g.42784C>T

AA changes

R2366C Score: 180 explain score(s)

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

2366

frameshift

known variant

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.274	0.997
	3.323	1
(flanking)	6.191	1

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
Acc marginally increased	42792	wt: 0.9358 / mu: 0.9582 (marginal change - not scored)	wt: GGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGG mu: GGCCACGGTATTTGCTTATTAGAAGCACAGATCGCAACCGG	atta\|GAAG
Acc increased	42793	wt: 0.29 / mu: 0.51	wt: GCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGG mu: GCCACGGTATTTGCTTATTAGAAGCACAGATCGCAACCGGG	ttag\|AAGC

distance from splice site

1717

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

2366

mutated

not conserved

2366

Ptroglodytes

all identical

ENSPTRG00000017702

2366

Mmulatta

all identical

ENSMMUG00000014784

2366

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000054889

2378

Ggallus

all identical

ENSGALG00000012790

2370

Trubripes

no homologue

Drerio

all identical

ENSDARG00000022309

2107

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1946	2871	REGION	Globular 2.	lost
2244	2446	REGION	4.5 X 38 AA tandem repeats (Domain B).	lost
2361	2372	HELIX		lost
2365	2402	REPEAT	Plectin 10.	lost
2373	2375	TURN		might get lost (downstream of altered splice site)
2376	2378	STRAND		might get lost (downstream of altered splice site)
2380	2382	TURN		might get lost (downstream of altered splice site)
2384	2386	STRAND		might get lost (downstream of altered splice site)
2388	2393	HELIX		might get lost (downstream of altered splice site)
2399	2406	HELIX		might get lost (downstream of altered splice site)
2406	2440	REPEAT	Plectin 11.	might get lost (downstream of altered splice site)
2414	2417	STRAND		might get lost (downstream of altered splice site)
2418	2421	TURN		might get lost (downstream of altered splice site)
2422	2424	STRAND		might get lost (downstream of altered splice site)
2426	2431	HELIX		might get lost (downstream of altered splice site)
2437	2439	TURN		might get lost (downstream of altered splice site)
2442	2446	STRAND		might get lost (downstream of altered splice site)
2456	2493	REPEAT	Plectin 12.	might get lost (downstream of altered splice site)
2480	2480	LIPID	Omega-hydroxyceramide glutamate ester (Potential).	might get lost (downstream of altered splice site)
2507	2544	REPEAT	Plectin 13.	might get lost (downstream of altered splice site)
2606	2606	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2609	2822	REGION	4.5 X 38 AA tandem repeats (Domain C).	might get lost (downstream of altered splice site)
2610	2647	REPEAT	Plectin 14.	might get lost (downstream of altered splice site)
2619	2624	STRAND		might get lost (downstream of altered splice site)
2625	2628	TURN		might get lost (downstream of altered splice site)
2629	2631	STRAND		might get lost (downstream of altered splice site)
2633	2638	HELIX		might get lost (downstream of altered splice site)
2644	2655	HELIX		might get lost (downstream of altered splice site)
2648	2685	REPEAT	Plectin 15.	might get lost (downstream of altered splice site)
2656	2658	TURN		might get lost (downstream of altered splice site)
2659	2661	STRAND		might get lost (downstream of altered splice site)
2663	2665	TURN		might get lost (downstream of altered splice site)
2671	2676	HELIX		might get lost (downstream of altered splice site)
2682	2696	HELIX		might get lost (downstream of altered splice site)
2687	2688	CONFLICT	RL -> SV (in Ref. 1; AAA85135 and 4; AAA35766).	might get lost (downstream of altered splice site)
2709	2714	HELIX		might get lost (downstream of altered splice site)
2720	2732	HELIX		might get lost (downstream of altered splice site)
2724	2761	REPEAT	Plectin 16.	might get lost (downstream of altered splice site)
2739	2741	HELIX		might get lost (downstream of altered splice site)
2747	2752	HELIX		might get lost (downstream of altered splice site)
2758	2765	HELIX		might get lost (downstream of altered splice site)
2762	2799	REPEAT	Plectin 17.	might get lost (downstream of altered splice site)
2767	2769	HELIX		might get lost (downstream of altered splice site)
2777	2779	TURN		might get lost (downstream of altered splice site)
2785	2791	HELIX		might get lost (downstream of altered splice site)
2796	2798	TURN		might get lost (downstream of altered splice site)
2801	2805	STRAND		might get lost (downstream of altered splice site)
2815	2815	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2820	2820	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2821	2821	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2824	2847	REGION	6 X 4 AA tandem repeats of G-S-R-[SR].	might get lost (downstream of altered splice site)
2825	2825	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2849	2849	MUTAGEN	S->G: Increases association with KRT5- KRT14, KRT8-KRT18 or VIM intermediate filaments.	might get lost (downstream of altered splice site)
2849	2849	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2853	2853	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2857	2857	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2868	2868	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

8616 / 8616

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

2872 / 2872

position of stopcodon in wt / mu cDNA

8957 / 8957

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

342 / 342

chromosome

strand

last intron/exon boundary

5721

theoretical NMD boundary in CDS

5329

length of CDS

8616

coding sequence (CDS) position

7096

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

7437

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

42784

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

7584591

original gDNA sequence snippet

TCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATC

altered gDNA sequence snippet

TCGAAAAGGGCCACGGTATTTGCTTATTAGAAGCACAGATC

original cDNA sequence snippet

TCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATC

altered cDNA sequence snippet

TCGAAAAGGGCCACGGTATTTGCTTATTAGAAGCACAGATC

wildtype AA sequence

MSCNGGSHPR INTLGRMIRA ESGPDLRYEV TSGGGGTSRM YYSRRGVITD QNSDGYCQTG
TMSRHQNQNT IQELLQNCSD CLMRAELIVQ PELKYGDGIQ LTRSRELDEC FAQANDQMEI
LDSLIREMRQ MGQPCDAYQK RLLQLQEQMR ALYKAISVPR VRRASSKGGG GYTCQSGSGW
DEFTKHVTSE CLGWMRQQRA EMDMVAWGVD LASVEQHINS HRGIHNSIGD YRWQLDKIKA
DLREKSAIYQ LEEEYENLLK ASFERMDHLR QLQNIIQATS REIMWINDCE EEELLYDWSD
KNTNIAQKQE AFSIRMSQLE VKEKELNKLK QESDQLVLNQ HPASDKIEAY MDTLQTQWSW
ILQITKCIDV HLKENAAYFQ FFEEAQSTEA YLKGLQDSIR KKYPCDKNMP LQHLLEQIKE
LEKEREKILE YKRQVQNLVN KSKKIVQLKP RNPDYRSNKP IILRALCDYK QDQKIVHKGD
ECILKDNNER SKWYVTGPGG VDMLVPSVGL IIPPPNPLAV DLSCKIEQYY EAILALWNQL
YINMKSLVSW HYCMIDIEKI RAMTIAKLKT MRQEDYMKTI ADLELHYQEF IRNSQGSEMF
GDDDKRKIQS QFTDAQKHYQ TLVIQLPGYP QHQTVTTTEI THHGTCQDVN HNKVIETNRE
NDKQETWMLM ELQKIRRQIE HCEGRMTLKN LPLADQGSSH HITVKINELK SVQNDSQAIA
EVLNQLKDML ANFRGSEKYC YLQNEVFGLF QKLENINGVT DGYLNSLCTV RALLQAILQT
EDMLKVYEAR LTEEETVCLD LDKVEAYRCG LKKIKNDLNL KKSLLATMKT ELQKAQQIHS
QTSQQYPLYD LDLGKFGEKV TQLTDRWQRI DKQIDFRLWD LEKQIKQLRN YRDNYQAFCK
WLYDAKRRQD SLESMKFGDS NTVMRFLNEQ KNLHSEISGK RDKSEEVQKI AELCANSIKD
YELQLASYTS GLETLLNIPI KRTMIQSPSG VILQEAADVH ARYIELLTRS GDYYRFLSEM
LKSLEDLKLK NTKIEVLEEE LRLARDANSE NCNKNKFLDQ NLQKYQAECS QFKAKLASLE
ELKRQAELDG KSAKQNLDKC YGQIKELNEK ITRLTYEIED EKRRRKSVED RFDQQKNDYD
QLQKARQCEK ENLGWQKLES EKAIKEKEYE IERLRVLLQE EGTRKREYEN ELAKVRNHYN
EEMSNLRNKY ETEINITKTT IKEISMQKED DSKNLRNQLD RLSRENRDLK DEIVRLNDSI
LQATEQRRRA EENALQQKAC GSEIMQKKQH LEIELKQVMQ QRSEDNARHK QSLEEAAKTI
QDKNKEIERL KAEFQEEAKR RWEYENELSK VRNNYDEEII SLKNQFETEI NITKTTIHQL
TMQKEEDTSG YRAQIDNLTR ENRSLSEEIK RLKNTLTQTT ENLRRVEEDI QQQKATGSEV
SQRKQQLEVE LRQVTQMRTE ESVRYKQSLD DAAKTIQDKN KEIERLKQLI DKETNDRKCL
EDENARLQRV QYDLQKANSS ATETINKLKV QEQELTRLRI DYERVSQERT VKDQDITRFQ
NSLKELQLQK QKVEEELNRL KRTASEDSCK RKKLEEELEG MRRSLKEQAI KITNLTQQLE
QASIVKKRSE DDLRQQRDVL DGHLREKQRT QEELRRLSSE VEALRRQLLQ EQESVKQAHL
RNEHFQKAIE DKSRSLNESK IEIERLQSLT ENLTKEHLML EEELRNLRLE YDDLRRGRSE
ADSDKNATIL ELRSQLQISN NRTLELQGLI NDLQRERENL RQEIEKFQKQ ALEASNRIQE
SKNQCTQVVQ ERESLLVKIK VLEQDKARLQ RLEDELNRAK STLEAETRVK QRLECEKQQI
QNDLNQWKTQ YSRKEEAIRK IESEREKSER EKNSLRSEIE RLQAEIKRIE ERCRRKLEDS
TRETQSQLET ERSRYQREID KLRQRPYGSH RETQTECEWT VDTSKLVFDG LRKKVTAMQL
YECQLIDKTT LDKLLKGKKS VEEVASEIQP FLRGAGSIAG ASASPKEKYS LVEAKRKKLI
SPESTVMLLE AQAATGGIID PHRNEKLTVD SAIARDLIDF DDRQQIYAAE KAITGFDDPF
SGKTVSVSEA IKKNLIDRET GMRLLEAQIA SGGVVDPVNS VFLPKDVALA RGLIDRDLYR
SLNDPRDSQK NFVDPVTKKK VSYVQLKERC RIEPHTGLLL LSVQKRSMSF QGIRQPVTVT
ELVDSGILRP STVNELESGQ ISYDEVGERI KDFLQGSSCI AGIYNETTKQ KLGIYEAMKI
GLVRPGTALE LLEAQAATGF IVDPVSNLRL PVEEAYKRGL VGIEFKEKLL SAERAVTGYN
DPETGNIISL FQAMNKELIE KGHGIRLLEA QIATGGIIDP KESHRLPVDI AYKRGYFNEE
LSEILSDPSD DTKGFFDPNT EENLTYLQLK ERCIKDEETG LCLLPLKEKK KQVQTSQKNT
LRKRRVVIVD PETNKEMSVQ EAYKKGLIDY ETFKELCEQE CEWEEITITG SDGSTRVVLV
DRKTGSQYDI QDAIDKGLVD RKFFDQYRSG SLSLTQFADM ISLKNGVGTS SSMGSGVSDD
VFSSSRHESV SKISTISSVR NLTIRSSSFS DTLEESSPIA AIFDTENLEK ISITEGIERG
IVDSITGQRL LEAQACTGGI IHPTTGQKLS LQDAVSQGVI DQDMATRLKP AQKAFIGFEG
VKGKKKMSAA EAVKEKWLPY EAGQRFLEFQ YLTGGLVDPE VHGRISTEEA IRKGFIDGRA
AQRLQDTSSY AKILTCPKTK LKISYKDAIN RSMVEDITGL RLLEAASVSS KGLPSPYNMS
SAPGSRSGSR SGSRSGSRSG SRSGSRRGSF DATGNSSYSY SYSFSSSSIG H*

mutated AA sequence

MSCNGGSHPR INTLGRMIRA ESGPDLRYEV TSGGGGTSRM YYSRRGVITD QNSDGYCQTG
TMSRHQNQNT IQELLQNCSD CLMRAELIVQ PELKYGDGIQ LTRSRELDEC FAQANDQMEI
LDSLIREMRQ MGQPCDAYQK RLLQLQEQMR ALYKAISVPR VRRASSKGGG GYTCQSGSGW
DEFTKHVTSE CLGWMRQQRA EMDMVAWGVD LASVEQHINS HRGIHNSIGD YRWQLDKIKA
DLREKSAIYQ LEEEYENLLK ASFERMDHLR QLQNIIQATS REIMWINDCE EEELLYDWSD
KNTNIAQKQE AFSIRMSQLE VKEKELNKLK QESDQLVLNQ HPASDKIEAY MDTLQTQWSW
ILQITKCIDV HLKENAAYFQ FFEEAQSTEA YLKGLQDSIR KKYPCDKNMP LQHLLEQIKE
LEKEREKILE YKRQVQNLVN KSKKIVQLKP RNPDYRSNKP IILRALCDYK QDQKIVHKGD
ECILKDNNER SKWYVTGPGG VDMLVPSVGL IIPPPNPLAV DLSCKIEQYY EAILALWNQL
YINMKSLVSW HYCMIDIEKI RAMTIAKLKT MRQEDYMKTI ADLELHYQEF IRNSQGSEMF
GDDDKRKIQS QFTDAQKHYQ TLVIQLPGYP QHQTVTTTEI THHGTCQDVN HNKVIETNRE
NDKQETWMLM ELQKIRRQIE HCEGRMTLKN LPLADQGSSH HITVKINELK SVQNDSQAIA
EVLNQLKDML ANFRGSEKYC YLQNEVFGLF QKLENINGVT DGYLNSLCTV RALLQAILQT
EDMLKVYEAR LTEEETVCLD LDKVEAYRCG LKKIKNDLNL KKSLLATMKT ELQKAQQIHS
QTSQQYPLYD LDLGKFGEKV TQLTDRWQRI DKQIDFRLWD LEKQIKQLRN YRDNYQAFCK
WLYDAKRRQD SLESMKFGDS NTVMRFLNEQ KNLHSEISGK RDKSEEVQKI AELCANSIKD
YELQLASYTS GLETLLNIPI KRTMIQSPSG VILQEAADVH ARYIELLTRS GDYYRFLSEM
LKSLEDLKLK NTKIEVLEEE LRLARDANSE NCNKNKFLDQ NLQKYQAECS QFKAKLASLE
ELKRQAELDG KSAKQNLDKC YGQIKELNEK ITRLTYEIED EKRRRKSVED RFDQQKNDYD
QLQKARQCEK ENLGWQKLES EKAIKEKEYE IERLRVLLQE EGTRKREYEN ELAKVRNHYN
EEMSNLRNKY ETEINITKTT IKEISMQKED DSKNLRNQLD RLSRENRDLK DEIVRLNDSI
LQATEQRRRA EENALQQKAC GSEIMQKKQH LEIELKQVMQ QRSEDNARHK QSLEEAAKTI
QDKNKEIERL KAEFQEEAKR RWEYENELSK VRNNYDEEII SLKNQFETEI NITKTTIHQL
TMQKEEDTSG YRAQIDNLTR ENRSLSEEIK RLKNTLTQTT ENLRRVEEDI QQQKATGSEV
SQRKQQLEVE LRQVTQMRTE ESVRYKQSLD DAAKTIQDKN KEIERLKQLI DKETNDRKCL
EDENARLQRV QYDLQKANSS ATETINKLKV QEQELTRLRI DYERVSQERT VKDQDITRFQ
NSLKELQLQK QKVEEELNRL KRTASEDSCK RKKLEEELEG MRRSLKEQAI KITNLTQQLE
QASIVKKRSE DDLRQQRDVL DGHLREKQRT QEELRRLSSE VEALRRQLLQ EQESVKQAHL
RNEHFQKAIE DKSRSLNESK IEIERLQSLT ENLTKEHLML EEELRNLRLE YDDLRRGRSE
ADSDKNATIL ELRSQLQISN NRTLELQGLI NDLQRERENL RQEIEKFQKQ ALEASNRIQE
SKNQCTQVVQ ERESLLVKIK VLEQDKARLQ RLEDELNRAK STLEAETRVK QRLECEKQQI
QNDLNQWKTQ YSRKEEAIRK IESEREKSER EKNSLRSEIE RLQAEIKRIE ERCRRKLEDS
TRETQSQLET ERSRYQREID KLRQRPYGSH RETQTECEWT VDTSKLVFDG LRKKVTAMQL
YECQLIDKTT LDKLLKGKKS VEEVASEIQP FLRGAGSIAG ASASPKEKYS LVEAKRKKLI
SPESTVMLLE AQAATGGIID PHRNEKLTVD SAIARDLIDF DDRQQIYAAE KAITGFDDPF
SGKTVSVSEA IKKNLIDRET GMRLLEAQIA SGGVVDPVNS VFLPKDVALA RGLIDRDLYR
SLNDPRDSQK NFVDPVTKKK VSYVQLKERC RIEPHTGLLL LSVQKRSMSF QGIRQPVTVT
ELVDSGILRP STVNELESGQ ISYDEVGERI KDFLQGSSCI AGIYNETTKQ KLGIYEAMKI
GLVRPGTALE LLEAQAATGF IVDPVSNLRL PVEEAYKRGL VGIEFKEKLL SAERAVTGYN
DPETGNIISL FQAMNKELIE KGHGICLLEA QIATGGIIDP KESHRLPVDI AYKRGYFNEE
LSEILSDPSD DTKGFFDPNT EENLTYLQLK ERCIKDEETG LCLLPLKEKK KQVQTSQKNT
LRKRRVVIVD PETNKEMSVQ EAYKKGLIDY ETFKELCEQE CEWEEITITG SDGSTRVVLV
DRKTGSQYDI QDAIDKGLVD RKFFDQYRSG SLSLTQFADM ISLKNGVGTS SSMGSGVSDD
VFSSSRHESV SKISTISSVR NLTIRSSSFS DTLEESSPIA AIFDTENLEK ISITEGIERG
IVDSITGQRL LEAQACTGGI IHPTTGQKLS LQDAVSQGVI DQDMATRLKP AQKAFIGFEG
VKGKKKMSAA EAVKEKWLPY EAGQRFLEFQ YLTGGLVDPE VHGRISTEEA IRKGFIDGRA
AQRLQDTSSY AKILTCPKTK LKISYKDAIN RSMVEDITGL RLLEAASVSS KGLPSPYNMS
SAPGSRSGSR SGSRSGSRSG SRSGSRRGSF DATGNSSYSY SYSFSSSSIG H*

speed

0.39 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems