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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000343508
Querying Taster for transcript #2: ENST00000297405
Querying Taster for transcript #3: ENST00000455883
Querying Taster for transcript #4: ENST00000352409
MT speed 0 s - this script 4.420675 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CSMD3	polymorphism_automatic	0.993049851544281	simple_aae		affected		N3621H	single base exchange	rs1592624		show file
CSMD3	polymorphism_automatic	0.993049851544281	simple_aae		affected		N3581H	single base exchange	rs1592624		show file
CSMD3	polymorphism_automatic	0.993049851544281	simple_aae		affected		N3551H	single base exchange	rs1592624		show file
CSMD3	polymorphism_automatic	0.995803068454673	simple_aae		affected		N3452H	single base exchange	rs1592624		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.00695014845571926 (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)

chr8:113241088T>GN/A show variant in all transcripts IGV

HGNC symbol

CSMD3

Ensembl transcript ID

ENST00000297405

Genbank transcript ID

NM_198123

UniProt peptide

Q7Z407

alteration type

single base exchange

alteration region

CDS

DNA changes

c.10861A>C
cDNA.11106A>C
g.1208241A>C

AA changes

N3621H Score: 68 explain score(s)

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

3621

frameshift

known variant

Reference ID: rs1592624

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1356	855	2211
ExAC	23617	-14467	9150

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.576	1
	2.576	0.996
(flanking)	-0.637	0.749

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	1208241	wt: 0.3594 / mu: 0.4057 (marginal change - not scored)	wt: CAGAAGGTTCAAATTCTTCAAATCAACCTCATGGTACAAAT mu: CAGAAGGTTCAAATTCTTCACATCAACCTCATGGTACAAAT	tcaa\|ATCA
Acc increased	1208245	wt: 0.41 / mu: 0.89	wt: AGGTTCAAATTCTTCAAATCAACCTCATGGTACAAATAGTA mu: AGGTTCAAATTCTTCACATCAACCTCATGGTACAAATAGTA	atca\|ACCT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

3621

mutated

all conserved

3621

Ptroglodytes

all identical

ENSPTRG00000020517

3621

Mmulatta

all identical

ENSMMUG00000007342

3621

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000022311

3621

Ggallus

all identical

ENSGALG00000016111

3276

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000025787

2730

protein features

start (aa)	end (aa)	feature	details
64	3630	TOPO_DOM	Extracellular (Potential).	lost
3627	3627	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
3631	3651	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
3652	3707	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

11124 / 11124

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

3708 / 3708

position of stopcodon in wt / mu cDNA

11369 / 11369

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

246 / 246

chromosome

strand

-1

last intron/exon boundary

11210

theoretical NMD boundary in CDS

10914

length of CDS

11124

coding sequence (CDS) position

10861

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

11106

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

1208241

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

113241088

original gDNA sequence snippet

CAGAAGGTTCAAATTCTTCAAATCAACCTCATGGTACAAAT

altered gDNA sequence snippet

CAGAAGGTTCAAATTCTTCACATCAACCTCATGGTACAAAT

original cDNA sequence snippet

CAGAAGGTTCAAATTCTTCAAATCAACCTCATGGTACAAAT

altered cDNA sequence snippet

CAGAAGGTTCAAATTCTTCACATCAACCTCATGGTACAAAT

wildtype AA sequence

MKGIRKGESR AKESKPWEPG KRRCAKCGRL DFILMKKMGI KSGFTFWNLV FLLTVSCVKG
FIYTCGGTLK GLNGTIESPG FPYGYPNGAN CTWVIIAEER NRIQIVFQSF ALEEEYDYLS
LYDGHPHPTN FRTRLTGFHL PPPVTSTKSV FSLRLTSDFA VSAHGFKVYY EELQSSSCGN
PGVPPKGVLY GTRFDVGDKI RYSCVTGYIL DGHPQLTCIA NSVNTASWDF PVPICRAEDA
CGGTMRGSSG IISSPSFPNE YHNNADCTWT IVAEPGDTIS LIFTDFQMEE KYDYLEIEGS
EPPTIWLSGM NIPPPIISNK NWLRLHFVTD SNHRYRGFSA PYQGSSTLTH TTSTGELEEH
NRTTTGAIAV ASTPADVTVS SVTAVTIHRL SEEQRVQVTS LRNSGLDPNT SKDGLSPHPA
DTQSTRRRPR HAEQIERTKE LAVVTHRVKK AIDFKSRGFK LFPGKDNSNK FSILNEGGIK
TASNLCPDPG EPENGKRIGS DFSLGSTVQF SCDEDYVLQG AKSITCQRIA EVFAAWSDHR
PVCKVKTCGS NLQGPSGTFT SPNFPFQYDS NAQCVWVITA VNTNKVIQIN FEEFDLEIGY
DTLTIGDGGE VGDPRTVLQV LTGSFVPDLI VSMSSQMWLH LQTDESVGSV GFKVNYKEIE
KESCGDPGTP LYGIREGDGF SNRDVLRFEC QFGFELIGEK SIVCQENNQW SANIPICIFP
CLSNFTAPMG TVLSPDYPEG YGNNLNCIWT IISDPGSRIH LSFNDFDLES QFDFLAVKDG
DSPESPILGT FTGAEVPSHL TSNSHILRLE FQADHSMSGR GFNITYNTFG HNECPDPGIP
INARRFGDNF QLGSSISVIC EEGFIKTQGT ETITCILMDG KVMWSGLIPK CGAPCGGHFS
APSGVILSPG WPGYYKDSLN CEWVIEAEPG HSIKITFERF QTELNYDVLE VHDGPNLLSP
LLGSYNGTQV PQFLFSSSNF IYLLFTTDNS RSNNGFKIHY ESVTVNTYSC LDPGIPVHGR
RYGHDFSIGS TVSFSCDSGY RLSHEEPLLC EKNHWWSHPL PTCDALCGGD VRGPSGTILS
PGYPEFYPNS LNCTWTVDVT HGKGVQFNFH TFHLEDHHDY LLITENGSFT QPLARLTGSD
LPPTINAGLY GNFRAQLRFI SDFSISYEGF NITFSEYNLE PCEDPGIPQY GSRIGFNFGI
GDTLTFSCSS GYRLEGTSEI ICLGGGRRVW SAPLPRCVAE CGASATNNEG ILLSPNYPLN
YENNHECIYS IQVQAGKGIN ISARTFHLAQ GDVLKIYDGK DKTTHLLGAF TGASMRGLTL
SSTSNQLWLE FNSDTEGTDE GFQLVYTSFE LSHCEDPGIP QFGYKISDQG HFAGSTIIYG
CNPGYTLHGS SLLKCMTGER RAWDYPLPSC IAECGGRFKG ESSGRILSPG YPFPYDNNLR
CMWMIEVDPG NIVSLQFLAF DTEASHDILR VWDGPPENDM LLKEISGSLI PEGIHSTLNI
VTIQFDTDFY ISKSGFAIQF SSSVATACRD PGVPMNGTRN GDGREPGDTV VFQCDPGYEL
QGEERITCIQ VENRYFWQPS PPVCIAPCGG NLTGSSGFIL SPNFPHPYPH SRDCDWTITV
NADYVISLAF ISFSIEPNYD FLYIYDGPDS NSPLIGSFQD SKLPERIESS SNTMHLAFRS
DGSVSYTGFH LEYKAKLRES CFDPGNIMNG TRLGMDYKLG STVTYYCDAG YVLQGYSTLT
CIMGDDGRPG WNRALPSCHA PCGSRSTGSE GTVLSPNYPK NYSVGHNCVY SIAVPKEFVV
FGQFVFFQTS LHDVVEVYDG PTQQSSLLSS LSGSHSGESL PLSSGNQITI RFTSVGPITA
KGFHFVYQAV PRTSSTQCSS VPEPRFGRRI GNEFAVGSSV LFDCNPGYIL HGSIAIRCET
VPNSLAQWND SLPTCIVPCG GILTKRKGTI LSPGYPEPYD NNLNCVWKIT VPEGAGIQVQ
VVSFATEHNW DSLDFYDGGD NNAPRLGSYS GTTIPHLLNS TSNNLYLNFQ SDISVSAAGF
HLEYTAIGLD SCPEPQTPSS GIKIGDRYMV GDVVSFQCDQ GYSLQGHSHI TCMPGPVRRW
NYPIPICLAQ CGGAMSDFSG VILSPGFPGN YPSSLDCTWT INLPIGFGVH LQFVNFSTET
IHDYLEVRSG SSETSTVIGR LSGPQIPSSL FSTTHETSLY FHSDYSQNKQ GFHIVYQAYQ
LQSCPDPRPF RNGFVIGNDF TVGQTISFEC FPGYTLIGNS ALTCLHGVSR NWNHPLPRCE
ALCGGNITAM NGTIYSPGYP DEYPNFQDCF WLVRVPPGNG IYINFTVLQT EPIYDFITVW
DGPDQNSPQI GQFSGNTALE SVYSTSNQIL IKFHSDFTTS GFFVLSYHAY QLRVCQPPPP
VPNAEILTED DEFEIGDIIR YQCLPGFTLV GNAILTCRLG ERLQMDGAPP VCQVLCPANE
LRLDSTGVIL SPGYPDSYPN LQMCAWSISV EKGYNITMFV EFFQTEKEFD VLQVYDGPNI
QSPVLISLSG DYSSAFNITS NGHEVFLQWS ADHGNNKKGF RIRYIAFYCS TPESPPHGYI
ISQTGGQLNS VVRWACDRGF RLVGKSSAVC RKSSYGYHAW DAPVPACQAI SCGIPKAPTN
GGILTTDYLV GTRVTYFCND GYRLSSKELT TAVCQSDGTW SNHNKTPRCV VVTCPSINSF
ILEHGRWRIV NGSHYEYKTK VVFSCDPGYH GLGPASIECL PNGTWSWRNE RPYCQIISCG
ELPTPPNGNK IGTQTSYGST AIFTCDLGFM LVGSAVRECL SSGLWSESET RCLAGHCGIP
ELIVNGQVIG ENYGYRDTVV YQCNPGFRLI GSSVRICQQD HNWSGQLPSC VPVSCGHPGS
PIYGRTSGNG FNFNDVVTFS CNIGYLMQGP TKAQCQANRQ WSHPPPMCKV VNCSDPGIPA
NSKRESKIEH GNFTYGTVVF YDCNPGYFLF GSSVLICQPN GQWDKPLPEC IMIDCGHPGV
PPNAVLSGEK YTFGSTVHYS CTGKRSLLGQ SSRTCQLNGH WSGSQPHCSG DATGTCGDPG
TPGHGSRQES NFRTKSTVRY ACDTGYILHG SEERTCLANG SWTGRQPECK AVQCGNPGTT
ANGKVFRIDG TTFSSSVIYS CMEGYILSGP SVRQCTANGT WSGTLPNCTI ISCGDPGIPA
NGLRYGDDYV VGQNVSYMCQ PGYTMELNGS RIRTCTINGT WSGVMPTCRA VTCPTPPQIS
NGRLEGTNFD WGFSISYICS PGYELSFPAV LTCVGNGTWS GEVPQCLPKF CGDPGIPAQG
KREGKSFIYQ SEVSFSCNFP FILVGSSTRI CQADGTWSGS SPHCIEPTQT SCENPGVPRH
GSQNNTFGFQ VGSVVQFHCK KGHLLQGSTT RTCLPDLTWS GIQPECIPHS CKQPETPAHA
NVVGMDLPSH GYTLIYTCQP GFFLAGGTEH RVCRSDNTWT GKVPICEAGS KILVKDPRPA
LGTPSPKLSV PDDVFAQNYI WKGSYNFKGR KQPMTLTVTS FNASTGRVNA TLSNSNMELL
LSGVYKSQEA RLMLRIYLIK VPAHASVKKM KEENWAMDGF VSAEPDGATY VFQGFIQGKD
YGQFGLQRLG LNMSEGSNSS NQPHGTNSSS VAIAILVPFF ALIFAGFGFY LYKQRTAPKT
QYTGCSVHEN NNGQAAFENP MYDTNAKSVE GKAVRFDPNL NTVCTMV*

mutated AA sequence

MKGIRKGESR AKESKPWEPG KRRCAKCGRL DFILMKKMGI KSGFTFWNLV FLLTVSCVKG
FIYTCGGTLK GLNGTIESPG FPYGYPNGAN CTWVIIAEER NRIQIVFQSF ALEEEYDYLS
LYDGHPHPTN FRTRLTGFHL PPPVTSTKSV FSLRLTSDFA VSAHGFKVYY EELQSSSCGN
PGVPPKGVLY GTRFDVGDKI RYSCVTGYIL DGHPQLTCIA NSVNTASWDF PVPICRAEDA
CGGTMRGSSG IISSPSFPNE YHNNADCTWT IVAEPGDTIS LIFTDFQMEE KYDYLEIEGS
EPPTIWLSGM NIPPPIISNK NWLRLHFVTD SNHRYRGFSA PYQGSSTLTH TTSTGELEEH
NRTTTGAIAV ASTPADVTVS SVTAVTIHRL SEEQRVQVTS LRNSGLDPNT SKDGLSPHPA
DTQSTRRRPR HAEQIERTKE LAVVTHRVKK AIDFKSRGFK LFPGKDNSNK FSILNEGGIK
TASNLCPDPG EPENGKRIGS DFSLGSTVQF SCDEDYVLQG AKSITCQRIA EVFAAWSDHR
PVCKVKTCGS NLQGPSGTFT SPNFPFQYDS NAQCVWVITA VNTNKVIQIN FEEFDLEIGY
DTLTIGDGGE VGDPRTVLQV LTGSFVPDLI VSMSSQMWLH LQTDESVGSV GFKVNYKEIE
KESCGDPGTP LYGIREGDGF SNRDVLRFEC QFGFELIGEK SIVCQENNQW SANIPICIFP
CLSNFTAPMG TVLSPDYPEG YGNNLNCIWT IISDPGSRIH LSFNDFDLES QFDFLAVKDG
DSPESPILGT FTGAEVPSHL TSNSHILRLE FQADHSMSGR GFNITYNTFG HNECPDPGIP
INARRFGDNF QLGSSISVIC EEGFIKTQGT ETITCILMDG KVMWSGLIPK CGAPCGGHFS
APSGVILSPG WPGYYKDSLN CEWVIEAEPG HSIKITFERF QTELNYDVLE VHDGPNLLSP
LLGSYNGTQV PQFLFSSSNF IYLLFTTDNS RSNNGFKIHY ESVTVNTYSC LDPGIPVHGR
RYGHDFSIGS TVSFSCDSGY RLSHEEPLLC EKNHWWSHPL PTCDALCGGD VRGPSGTILS
PGYPEFYPNS LNCTWTVDVT HGKGVQFNFH TFHLEDHHDY LLITENGSFT QPLARLTGSD
LPPTINAGLY GNFRAQLRFI SDFSISYEGF NITFSEYNLE PCEDPGIPQY GSRIGFNFGI
GDTLTFSCSS GYRLEGTSEI ICLGGGRRVW SAPLPRCVAE CGASATNNEG ILLSPNYPLN
YENNHECIYS IQVQAGKGIN ISARTFHLAQ GDVLKIYDGK DKTTHLLGAF TGASMRGLTL
SSTSNQLWLE FNSDTEGTDE GFQLVYTSFE LSHCEDPGIP QFGYKISDQG HFAGSTIIYG
CNPGYTLHGS SLLKCMTGER RAWDYPLPSC IAECGGRFKG ESSGRILSPG YPFPYDNNLR
CMWMIEVDPG NIVSLQFLAF DTEASHDILR VWDGPPENDM LLKEISGSLI PEGIHSTLNI
VTIQFDTDFY ISKSGFAIQF SSSVATACRD PGVPMNGTRN GDGREPGDTV VFQCDPGYEL
QGEERITCIQ VENRYFWQPS PPVCIAPCGG NLTGSSGFIL SPNFPHPYPH SRDCDWTITV
NADYVISLAF ISFSIEPNYD FLYIYDGPDS NSPLIGSFQD SKLPERIESS SNTMHLAFRS
DGSVSYTGFH LEYKAKLRES CFDPGNIMNG TRLGMDYKLG STVTYYCDAG YVLQGYSTLT
CIMGDDGRPG WNRALPSCHA PCGSRSTGSE GTVLSPNYPK NYSVGHNCVY SIAVPKEFVV
FGQFVFFQTS LHDVVEVYDG PTQQSSLLSS LSGSHSGESL PLSSGNQITI RFTSVGPITA
KGFHFVYQAV PRTSSTQCSS VPEPRFGRRI GNEFAVGSSV LFDCNPGYIL HGSIAIRCET
VPNSLAQWND SLPTCIVPCG GILTKRKGTI LSPGYPEPYD NNLNCVWKIT VPEGAGIQVQ
VVSFATEHNW DSLDFYDGGD NNAPRLGSYS GTTIPHLLNS TSNNLYLNFQ SDISVSAAGF
HLEYTAIGLD SCPEPQTPSS GIKIGDRYMV GDVVSFQCDQ GYSLQGHSHI TCMPGPVRRW
NYPIPICLAQ CGGAMSDFSG VILSPGFPGN YPSSLDCTWT INLPIGFGVH LQFVNFSTET
IHDYLEVRSG SSETSTVIGR LSGPQIPSSL FSTTHETSLY FHSDYSQNKQ GFHIVYQAYQ
LQSCPDPRPF RNGFVIGNDF TVGQTISFEC FPGYTLIGNS ALTCLHGVSR NWNHPLPRCE
ALCGGNITAM NGTIYSPGYP DEYPNFQDCF WLVRVPPGNG IYINFTVLQT EPIYDFITVW
DGPDQNSPQI GQFSGNTALE SVYSTSNQIL IKFHSDFTTS GFFVLSYHAY QLRVCQPPPP
VPNAEILTED DEFEIGDIIR YQCLPGFTLV GNAILTCRLG ERLQMDGAPP VCQVLCPANE
LRLDSTGVIL SPGYPDSYPN LQMCAWSISV EKGYNITMFV EFFQTEKEFD VLQVYDGPNI
QSPVLISLSG DYSSAFNITS NGHEVFLQWS ADHGNNKKGF RIRYIAFYCS TPESPPHGYI
ISQTGGQLNS VVRWACDRGF RLVGKSSAVC RKSSYGYHAW DAPVPACQAI SCGIPKAPTN
GGILTTDYLV GTRVTYFCND GYRLSSKELT TAVCQSDGTW SNHNKTPRCV VVTCPSINSF
ILEHGRWRIV NGSHYEYKTK VVFSCDPGYH GLGPASIECL PNGTWSWRNE RPYCQIISCG
ELPTPPNGNK IGTQTSYGST AIFTCDLGFM LVGSAVRECL SSGLWSESET RCLAGHCGIP
ELIVNGQVIG ENYGYRDTVV YQCNPGFRLI GSSVRICQQD HNWSGQLPSC VPVSCGHPGS
PIYGRTSGNG FNFNDVVTFS CNIGYLMQGP TKAQCQANRQ WSHPPPMCKV VNCSDPGIPA
NSKRESKIEH GNFTYGTVVF YDCNPGYFLF GSSVLICQPN GQWDKPLPEC IMIDCGHPGV
PPNAVLSGEK YTFGSTVHYS CTGKRSLLGQ SSRTCQLNGH WSGSQPHCSG DATGTCGDPG
TPGHGSRQES NFRTKSTVRY ACDTGYILHG SEERTCLANG SWTGRQPECK AVQCGNPGTT
ANGKVFRIDG TTFSSSVIYS CMEGYILSGP SVRQCTANGT WSGTLPNCTI ISCGDPGIPA
NGLRYGDDYV VGQNVSYMCQ PGYTMELNGS RIRTCTINGT WSGVMPTCRA VTCPTPPQIS
NGRLEGTNFD WGFSISYICS PGYELSFPAV LTCVGNGTWS GEVPQCLPKF CGDPGIPAQG
KREGKSFIYQ SEVSFSCNFP FILVGSSTRI CQADGTWSGS SPHCIEPTQT SCENPGVPRH
GSQNNTFGFQ VGSVVQFHCK KGHLLQGSTT RTCLPDLTWS GIQPECIPHS CKQPETPAHA
NVVGMDLPSH GYTLIYTCQP GFFLAGGTEH RVCRSDNTWT GKVPICEAGS KILVKDPRPA
LGTPSPKLSV PDDVFAQNYI WKGSYNFKGR KQPMTLTVTS FNASTGRVNA TLSNSNMELL
LSGVYKSQEA RLMLRIYLIK VPAHASVKKM KEENWAMDGF VSAEPDGATY VFQGFIQGKD
YGQFGLQRLG LNMSEGSNSS HQPHGTNSSS VAIAILVPFF ALIFAGFGFY LYKQRTAPKT
QYTGCSVHEN NNGQAAFENP MYDTNAKSVE GKAVRFDPNL NTVCTMV*

speed

0.84 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: 0.00695014845571926 (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)

chr8:113241088T>GN/A show variant in all transcripts IGV

HGNC symbol

CSMD3

Ensembl transcript ID

ENST00000343508

Genbank transcript ID

NM_198124

UniProt peptide

Q7Z407

alteration type

single base exchange

alteration region

CDS

DNA changes

c.10741A>C
cDNA.10912A>C
g.1208241A>C

AA changes

N3581H Score: 68 explain score(s)

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

3581

frameshift

known variant

Reference ID: rs1592624

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1356	855	2211
ExAC	23617	-14467	9150

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.576	1
	2.576	0.996
(flanking)	-0.637	0.749

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	1208241	wt: 0.3594 / mu: 0.4057 (marginal change - not scored)	wt: CAGAAGGTTCAAATTCTTCAAATCAACCTCATGGTACAAAT mu: CAGAAGGTTCAAATTCTTCACATCAACCTCATGGTACAAAT	tcaa\|ATCA
Acc increased	1208245	wt: 0.41 / mu: 0.89	wt: AGGTTCAAATTCTTCAAATCAACCTCATGGTACAAATAGTA mu: AGGTTCAAATTCTTCACATCAACCTCATGGTACAAATAGTA	atca\|ACCT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

3581

mutated

all conserved

3581

Ptroglodytes

all identical

ENSPTRG00000020517

3621

Mmulatta

all identical

ENSMMUG00000007342

3621

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000022311

3621

Ggallus

all identical

ENSGALG00000016111

3276

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000025787

2730

protein features

start (aa)	end (aa)	feature	details
64	3630	TOPO_DOM	Extracellular (Potential).	lost
3612	3612	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
3618	3618	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
3627	3627	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
3631	3651	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
3652	3707	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

11004 / 11004

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

3668 / 3668

position of stopcodon in wt / mu cDNA

11175 / 11175

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

172 / 172

chromosome

strand

-1

last intron/exon boundary

11016

theoretical NMD boundary in CDS

10794

length of CDS

11004

coding sequence (CDS) position

10741

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

10912

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

1208241

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

113241088

original gDNA sequence snippet

CAGAAGGTTCAAATTCTTCAAATCAACCTCATGGTACAAAT

altered gDNA sequence snippet

CAGAAGGTTCAAATTCTTCACATCAACCTCATGGTACAAAT

original cDNA sequence snippet

CAGAAGGTTCAAATTCTTCAAATCAACCTCATGGTACAAAT

altered cDNA sequence snippet

CAGAAGGTTCAAATTCTTCACATCAACCTCATGGTACAAAT

wildtype AA sequence

MWSWFLCWKP VQLDRQTASG FIYTCGGTLK GLNGTIESPG FPYGYPNGAN CTWVIIAEER
NRIQIVFQSF ALEEEYDYLS LYDGHPHPTN FRTRLTGFHL PPPVTSTKSV FSLRLTSDFA
VSAHGFKVYY EELQSSSCGN PGVPPKGVLY GTRFDVGDKI RYSCVTGYIL DGHPQLTCIA
NSVNTASWDF PVPICRAEDA CGGTMRGSSG IISSPSFPNE YHNNADCTWT IVAEPGDTIS
LIFTDFQMEE KYDYLEIEGS EPPTIWLSGM NIPPPIISNK NWLRLHFVTD SNHRYRGFSA
PYQGSSTLTH TTSTGELEEH NRTTTGAIAV ASTPADVTVS SVTAVTIHRL SEEQRVQVTS
LRNSGLDPNT SKDGLSPHPA DTQSTRRRPR HAEQIERTKE LAVVTHRVKK AIDFKSRGFK
LFPGKDNSNK FSILNEGGIK TASNLCPDPG EPENGKRIGS DFSLGSTVQF SCDEDYVLQG
AKSITCQRIA EVFAAWSDHR PVCKVKTCGS NLQGPSGTFT SPNFPFQYDS NAQCVWVITA
VNTNKVIQIN FEEFDLEIGY DTLTIGDGGE VGDPRTVLQV LTGSFVPDLI VSMSSQMWLH
LQTDESVGSV GFKVNYKEIE KESCGDPGTP LYGIREGDGF SNRDVLRFEC QFGFELIGEK
SIVCQENNQW SANIPICIFP CLSNFTAPMG TVLSPDYPEG YGNNLNCIWT IISDPGSRIH
LSFNDFDLES QFDFLAVKDG DSPESPILGT FTGAEVPSHL TSNSHILRLE FQADHSMSGR
GFNITYNTFG HNECPDPGIP INARRFGDNF QLGSSISVIC EEGFIKTQGT ETITCILMDG
KVMWSGLIPK CGAPCGGHFS APSGVILSPG WPGYYKDSLN CEWVIEAEPG HSIKITFERF
QTELNYDVLE VHDGPNLLSP LLGSYNGTQV PQFLFSSSNF IYLLFTTDNS RSNNGFKIHY
ESVTVNTYSC LDPGIPVHGR RYGHDFSIGS TVSFSCDSGY RLSHEEPLLC EKNHWWSHPL
PTCDALCGGD VRGPSGTILS PGYPEFYPNS LNCTWTVDVT HGKGVQFNFH TFHLEDHHDY
LLITENGSFT QPLARLTGSD LPPTINAGLY GNFRAQLRFI SDFSISYEGF NITFSEYNLE
PCEDPGIPQY GSRIGFNFGI GDTLTFSCSS GYRLEGTSEI ICLGGGRRVW SAPLPRCVAE
CGASATNNEG ILLSPNYPLN YENNHECIYS IQVQAGKGIN ISARTFHLAQ GDVLKIYDGK
DKTTHLLGAF TGASMRGLTL SSTSNQLWLE FNSDTEGTDE GFQLVYTSFE LSHCEDPGIP
QFGYKISDQG HFAGSTIIYG CNPGYTLHGS SLLKCMTGER RAWDYPLPSC IAECGGRFKG
ESSGRILSPG YPFPYDNNLR CMWMIEVDPG NIVSLQFLAF DTEASHDILR VWDGPPENDM
LLKEISGSLI PEGIHSTLNI VTIQFDTDFY ISKSGFAIQF SSSVATACRD PGVPMNGTRN
GDGREPGDTV VFQCDPGYEL QGEERITCIQ VENRYFWQPS PPVCIAPCGG NLTGSSGFIL
SPNFPHPYPH SRDCDWTITV NADYVISLAF ISFSIEPNYD FLYIYDGPDS NSPLIGSFQD
SKLPERIESS SNTMHLAFRS DGSVSYTGFH LEYKAKLRES CFDPGNIMNG TRLGMDYKLG
STVTYYCDAG YVLQGYSTLT CIMGDDGRPG WNRALPSCHA PCGSRSTGSE GTVLSPNYPK
NYSVGHNCVY SIAVPKEFVV FGQFVFFQTS LHDVVEVYDG PTQQSSLLSS LSGSHSGESL
PLSSGNQITI RFTSVGPITA KGFHFVYQAV PRTSSTQCSS VPEPRFGRRI GNEFAVGSSV
LFDCNPGYIL HGSIAIRCET VPNSLAQWND SLPTCIVPCG GILTKRKGTI LSPGYPEPYD
NNLNCVWKIT VPEGAGIQVQ VVSFATEHNW DSLDFYDGGD NNAPRLGSYS GTTIPHLLNS
TSNNLYLNFQ SDISVSAAGF HLEYTAIGLD SCPEPQTPSS GIKIGDRYMV GDVVSFQCDQ
GYSLQGHSHI TCMPGPVRRW NYPIPICLAQ CGGAMSDFSG VILSPGFPGN YPSSLDCTWT
INLPIGFGVH LQFVNFSTET IHDYLEVRSG SSETSTVIGR LSGPQIPSSL FSTTHETSLY
FHSDYSQNKQ GFHIVYQAYQ LQSCPDPRPF RNGFVIGNDF TVGQTISFEC FPGYTLIGNS
ALTCLHGVSR NWNHPLPRCE ALCGGNITAM NGTIYSPGYP DEYPNFQDCF WLVRVPPGNG
IYINFTVLQT EPIYDFITVW DGPDQNSPQI GQFSGNTALE SVYSTSNQIL IKFHSDFTTS
GFFVLSYHAY QLRVCQPPPP VPNAEILTED DEFEIGDIIR YQCLPGFTLV GNAILTCRLG
ERLQMDGAPP VCQVLCPANE LRLDSTGVIL SPGYPDSYPN LQMCAWSISV EKGYNITMFV
EFFQTEKEFD VLQVYDGPNI QSPVLISLSG DYSSAFNITS NGHEVFLQWS ADHGNNKKGF
RIRYIAFYCS TPESPPHGYI ISQTGGQLNS VVRWACDRGF RLVGKSSAVC RKSSYGYHAW
DAPVPACQAI SCGIPKAPTN GGILTTDYLV GTRVTYFCND GYRLSSKELT TAVCQSDGTW
SNHNKTPRCV VVTCPSINSF ILEHGRWRIV NGSHYEYKTK VVFSCDPGYH GLGPASIECL
PNGTWSWRNE RPYCQIISCG ELPTPPNGNK IGTQTSYGST AIFTCDLGFM LVGSAVRECL
SSGLWSESET RCLAGHCGIP ELIVNGQVIG ENYGYRDTVV YQCNPGFRLI GSSVRICQQD
HNWSGQLPSC VPVSCGHPGS PIYGRTSGNG FNFNDVVTFS CNIGYLMQGP TKAQCQANRQ
WSHPPPMCKV VNCSDPGIPA NSKRESKIEH GNFTYGTVVF YDCNPGYFLF GSSVLICQPN
GQWDKPLPEC IMIDCGHPGV PPNAVLSGEK YTFGSTVHYS CTGKRSLLGQ SSRTCQLNGH
WSGSQPHCSG DATGTCGDPG TPGHGSRQES NFRTKSTVRY ACDTGYILHG SEERTCLANG
SWTGRQPECK AVQCGNPGTT ANGKVFRIDG TTFSSSVIYS CMEGYILSGP SVRQCTANGT
WSGTLPNCTI ISCGDPGIPA NGLRYGDDYV VGQNVSYMCQ PGYTMELNGS RIRTCTINGT
WSGVMPTCRA VTCPTPPQIS NGRLEGTNFD WGFSISYICS PGYELSFPAV LTCVGNGTWS
GEVPQCLPKF CGDPGIPAQG KREGKSFIYQ SEVSFSCNFP FILVGSSTRI CQADGTWSGS
SPHCIEPTQT SCENPGVPRH GSQNNTFGFQ VGSVVQFHCK KGHLLQGSTT RTCLPDLTWS
GIQPECIPHS CKQPETPAHA NVVGMDLPSH GYTLIYTCQP GFFLAGGTEH RVCRSDNTWT
GKVPICEAGS KILVKDPRPA LGTPSPKLSV PDDVFAQNYI WKGSYNFKGR KQPMTLTVTS
FNASTGRVNA TLSNSNMELL LSGVYKSQEA RLMLRIYLIK VPAHASVKKM KEENWAMDGF
VSAEPDGATY VFQGFIQGKD YGQFGLQRLG LNMSEGSNSS NQPHGTNSSS VAIAILVPFF
ALIFAGFGFY LYKQRTAPKT QYTGCSVHEN NNGQAAFENP MYDTNAKSVE GKAVRFDPNL
NTVCTMV*

mutated AA sequence

MWSWFLCWKP VQLDRQTASG FIYTCGGTLK GLNGTIESPG FPYGYPNGAN CTWVIIAEER
NRIQIVFQSF ALEEEYDYLS LYDGHPHPTN FRTRLTGFHL PPPVTSTKSV FSLRLTSDFA
VSAHGFKVYY EELQSSSCGN PGVPPKGVLY GTRFDVGDKI RYSCVTGYIL DGHPQLTCIA
NSVNTASWDF PVPICRAEDA CGGTMRGSSG IISSPSFPNE YHNNADCTWT IVAEPGDTIS
LIFTDFQMEE KYDYLEIEGS EPPTIWLSGM NIPPPIISNK NWLRLHFVTD SNHRYRGFSA
PYQGSSTLTH TTSTGELEEH NRTTTGAIAV ASTPADVTVS SVTAVTIHRL SEEQRVQVTS
LRNSGLDPNT SKDGLSPHPA DTQSTRRRPR HAEQIERTKE LAVVTHRVKK AIDFKSRGFK
LFPGKDNSNK FSILNEGGIK TASNLCPDPG EPENGKRIGS DFSLGSTVQF SCDEDYVLQG
AKSITCQRIA EVFAAWSDHR PVCKVKTCGS NLQGPSGTFT SPNFPFQYDS NAQCVWVITA
VNTNKVIQIN FEEFDLEIGY DTLTIGDGGE VGDPRTVLQV LTGSFVPDLI VSMSSQMWLH
LQTDESVGSV GFKVNYKEIE KESCGDPGTP LYGIREGDGF SNRDVLRFEC QFGFELIGEK
SIVCQENNQW SANIPICIFP CLSNFTAPMG TVLSPDYPEG YGNNLNCIWT IISDPGSRIH
LSFNDFDLES QFDFLAVKDG DSPESPILGT FTGAEVPSHL TSNSHILRLE FQADHSMSGR
GFNITYNTFG HNECPDPGIP INARRFGDNF QLGSSISVIC EEGFIKTQGT ETITCILMDG
KVMWSGLIPK CGAPCGGHFS APSGVILSPG WPGYYKDSLN CEWVIEAEPG HSIKITFERF
QTELNYDVLE VHDGPNLLSP LLGSYNGTQV PQFLFSSSNF IYLLFTTDNS RSNNGFKIHY
ESVTVNTYSC LDPGIPVHGR RYGHDFSIGS TVSFSCDSGY RLSHEEPLLC EKNHWWSHPL
PTCDALCGGD VRGPSGTILS PGYPEFYPNS LNCTWTVDVT HGKGVQFNFH TFHLEDHHDY
LLITENGSFT QPLARLTGSD LPPTINAGLY GNFRAQLRFI SDFSISYEGF NITFSEYNLE
PCEDPGIPQY GSRIGFNFGI GDTLTFSCSS GYRLEGTSEI ICLGGGRRVW SAPLPRCVAE
CGASATNNEG ILLSPNYPLN YENNHECIYS IQVQAGKGIN ISARTFHLAQ GDVLKIYDGK
DKTTHLLGAF TGASMRGLTL SSTSNQLWLE FNSDTEGTDE GFQLVYTSFE LSHCEDPGIP
QFGYKISDQG HFAGSTIIYG CNPGYTLHGS SLLKCMTGER RAWDYPLPSC IAECGGRFKG
ESSGRILSPG YPFPYDNNLR CMWMIEVDPG NIVSLQFLAF DTEASHDILR VWDGPPENDM
LLKEISGSLI PEGIHSTLNI VTIQFDTDFY ISKSGFAIQF SSSVATACRD PGVPMNGTRN
GDGREPGDTV VFQCDPGYEL QGEERITCIQ VENRYFWQPS PPVCIAPCGG NLTGSSGFIL
SPNFPHPYPH SRDCDWTITV NADYVISLAF ISFSIEPNYD FLYIYDGPDS NSPLIGSFQD
SKLPERIESS SNTMHLAFRS DGSVSYTGFH LEYKAKLRES CFDPGNIMNG TRLGMDYKLG
STVTYYCDAG YVLQGYSTLT CIMGDDGRPG WNRALPSCHA PCGSRSTGSE GTVLSPNYPK
NYSVGHNCVY SIAVPKEFVV FGQFVFFQTS LHDVVEVYDG PTQQSSLLSS LSGSHSGESL
PLSSGNQITI RFTSVGPITA KGFHFVYQAV PRTSSTQCSS VPEPRFGRRI GNEFAVGSSV
LFDCNPGYIL HGSIAIRCET VPNSLAQWND SLPTCIVPCG GILTKRKGTI LSPGYPEPYD
NNLNCVWKIT VPEGAGIQVQ VVSFATEHNW DSLDFYDGGD NNAPRLGSYS GTTIPHLLNS
TSNNLYLNFQ SDISVSAAGF HLEYTAIGLD SCPEPQTPSS GIKIGDRYMV GDVVSFQCDQ
GYSLQGHSHI TCMPGPVRRW NYPIPICLAQ CGGAMSDFSG VILSPGFPGN YPSSLDCTWT
INLPIGFGVH LQFVNFSTET IHDYLEVRSG SSETSTVIGR LSGPQIPSSL FSTTHETSLY
FHSDYSQNKQ GFHIVYQAYQ LQSCPDPRPF RNGFVIGNDF TVGQTISFEC FPGYTLIGNS
ALTCLHGVSR NWNHPLPRCE ALCGGNITAM NGTIYSPGYP DEYPNFQDCF WLVRVPPGNG
IYINFTVLQT EPIYDFITVW DGPDQNSPQI GQFSGNTALE SVYSTSNQIL IKFHSDFTTS
GFFVLSYHAY QLRVCQPPPP VPNAEILTED DEFEIGDIIR YQCLPGFTLV GNAILTCRLG
ERLQMDGAPP VCQVLCPANE LRLDSTGVIL SPGYPDSYPN LQMCAWSISV EKGYNITMFV
EFFQTEKEFD VLQVYDGPNI QSPVLISLSG DYSSAFNITS NGHEVFLQWS ADHGNNKKGF
RIRYIAFYCS TPESPPHGYI ISQTGGQLNS VVRWACDRGF RLVGKSSAVC RKSSYGYHAW
DAPVPACQAI SCGIPKAPTN GGILTTDYLV GTRVTYFCND GYRLSSKELT TAVCQSDGTW
SNHNKTPRCV VVTCPSINSF ILEHGRWRIV NGSHYEYKTK VVFSCDPGYH GLGPASIECL
PNGTWSWRNE RPYCQIISCG ELPTPPNGNK IGTQTSYGST AIFTCDLGFM LVGSAVRECL
SSGLWSESET RCLAGHCGIP ELIVNGQVIG ENYGYRDTVV YQCNPGFRLI GSSVRICQQD
HNWSGQLPSC VPVSCGHPGS PIYGRTSGNG FNFNDVVTFS CNIGYLMQGP TKAQCQANRQ
WSHPPPMCKV VNCSDPGIPA NSKRESKIEH GNFTYGTVVF YDCNPGYFLF GSSVLICQPN
GQWDKPLPEC IMIDCGHPGV PPNAVLSGEK YTFGSTVHYS CTGKRSLLGQ SSRTCQLNGH
WSGSQPHCSG DATGTCGDPG TPGHGSRQES NFRTKSTVRY ACDTGYILHG SEERTCLANG
SWTGRQPECK AVQCGNPGTT ANGKVFRIDG TTFSSSVIYS CMEGYILSGP SVRQCTANGT
WSGTLPNCTI ISCGDPGIPA NGLRYGDDYV VGQNVSYMCQ PGYTMELNGS RIRTCTINGT
WSGVMPTCRA VTCPTPPQIS NGRLEGTNFD WGFSISYICS PGYELSFPAV LTCVGNGTWS
GEVPQCLPKF CGDPGIPAQG KREGKSFIYQ SEVSFSCNFP FILVGSSTRI CQADGTWSGS
SPHCIEPTQT SCENPGVPRH GSQNNTFGFQ VGSVVQFHCK KGHLLQGSTT RTCLPDLTWS
GIQPECIPHS CKQPETPAHA NVVGMDLPSH GYTLIYTCQP GFFLAGGTEH RVCRSDNTWT
GKVPICEAGS KILVKDPRPA LGTPSPKLSV PDDVFAQNYI WKGSYNFKGR KQPMTLTVTS
FNASTGRVNA TLSNSNMELL LSGVYKSQEA RLMLRIYLIK VPAHASVKKM KEENWAMDGF
VSAEPDGATY VFQGFIQGKD YGQFGLQRLG LNMSEGSNSS HQPHGTNSSS VAIAILVPFF
ALIFAGFGFY LYKQRTAPKT QYTGCSVHEN NNGQAAFENP MYDTNAKSVE GKAVRFDPNL
NTVCTMV*

speed

0.76 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.00695014845571926 (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)

chr8:113241088T>GN/A show variant in all transcripts IGV

HGNC symbol

CSMD3

Ensembl transcript ID

ENST00000352409

Genbank transcript ID

N/A

UniProt peptide

Q7Z407

alteration type

single base exchange

alteration region

CDS

DNA changes

c.10651A>C
cDNA.10810A>C
g.1208241A>C

AA changes

N3551H Score: 68 explain score(s)

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

3551

frameshift

known variant

Reference ID: rs1592624

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1356	855	2211
ExAC	23617	-14467	9150

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.576	1
	2.576	0.996
(flanking)	-0.637	0.749

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	1208241	wt: 0.3594 / mu: 0.4057 (marginal change - not scored)	wt: CAGAAGGTTCAAATTCTTCAAATCAACCTCATGGTACAAAT mu: CAGAAGGTTCAAATTCTTCACATCAACCTCATGGTACAAAT	tcaa\|ATCA
Acc increased	1208245	wt: 0.41 / mu: 0.89	wt: AGGTTCAAATTCTTCAAATCAACCTCATGGTACAAATAGTA mu: AGGTTCAAATTCTTCACATCAACCTCATGGTACAAATAGTA	atca\|ACCT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

3551

mutated

all conserved

3551

Ptroglodytes

all identical

ENSPTRG00000020517

3621

Mmulatta

all identical

ENSMMUG00000007342

3621

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000022311

3621

Ggallus

all identical

ENSGALG00000016111

3276

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000025787

2730

protein features

start (aa)	end (aa)	feature	details
64	3630	TOPO_DOM	Extracellular (Potential).	lost
3612	3612	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
3618	3618	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
3627	3627	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
3631	3651	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
3652	3707	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

10914 / 10914

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

3638 / 3638

position of stopcodon in wt / mu cDNA

11073 / 11073

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

160 / 160

chromosome

strand

-1

last intron/exon boundary

10914

theoretical NMD boundary in CDS

10704

length of CDS

10914

coding sequence (CDS) position

10651

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

10810

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

1208241

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

113241088

original gDNA sequence snippet

CAGAAGGTTCAAATTCTTCAAATCAACCTCATGGTACAAAT

altered gDNA sequence snippet

CAGAAGGTTCAAATTCTTCACATCAACCTCATGGTACAAAT

original cDNA sequence snippet

CAGAAGGTTCAAATTCTTCAAATCAACCTCATGGTACAAAT

altered cDNA sequence snippet

CAGAAGGTTCAAATTCTTCACATCAACCTCATGGTACAAAT

wildtype AA sequence

MKGIRKGESR AKESKPWEPG KRRCAKCGRL DFILMKKMGI KSGFTFWNLV FLLTVSCVKG
FIYTCGGTLK GLNGTIESPG FPYGYPNGAN CTWVIIAEER NRIQIVFQSF ALEEEYDYLS
LYDGHPHPTN FRTRLTGFHL PPPVTSTKSV FSLRLTSDFA VSAHGFKVYY EELQSSSCGN
PGVPPKGVLY GTRFDVGDKI RYSCVTGYIL DGHPQLTCIA NSVNTASWDF PVPICRAEDA
CGGTMRGSSG IISSPSFPNE YHNNADCTWT IVAEPGDTIS LIFTDFQMEE KYDYLEIEGS
EPPTIWLSGM NIPPPIISNK NWLRLHFVTD SNHRYRGFSA PYQGSSTLTH TTSTGELEEH
NRTTTGAIAV ASTPADVTVS SVTAVTIHRL SEEQRVQVTS LRNSGLDPNT SKDGLSPHPA
DTQSTRRRPR HAEQIERTKE LAVVTHRVKK AIDFKSRGFK LFPGKDNSNK FSILNEGGIK
TASNLCPDPG EPENGKRIGS DFSLGSTVQF SCDEDYVLQG AKSITCQRIA EVFAAWSDHR
PVCKVKTCGS NLQGPSGTFT SPNFPFQYDS NAQCVWVITA VNTNKVIQIN FEEFDLEIGY
DTLTIGDGGE VGDPRTVLQV LTGSFVPDLI VSMSSQMWLH LQTDESVGSV GFKVNYKEIE
KESCGDPGTP LYGIREGDGF SNRDVLRFEC QFGFELIGEK SIVCQENNQW SANIPICIFP
CLSNFTAPMG TVLSPDYPEG YGNNLNCIWT IISDPGSRIH LSFNDFDLES QFDFLAVKDG
DSPESPILGT FTGAEVPSHL TSNSHILRLE FQADHSMSGR GFNITYNTFG HNECPDPGIP
INARRFGDNF QLGSSISVIC EEGFIKTQGT ETITCILMDG KVMWSGLIPK CGAPCGGHFS
APSGVILSPG WPGYYKDSLN CEWVIEAEPG HSIKITFERF QTELNYDVLE VHDGPNLLSP
LLGSYNGTQV PQFLFSSSNF IYLLFTTDNS RSNNGFKIHY ESVTVNTYSC LDPGIPVHGR
RYGHDFSIGS TVSFSCDSGY RLSHEEPLLC EKNHWWSHPL PTCDALCGGD VRGPSGTILS
PGYPEFYPNS LNCTWTVDVT HGKGVQFNFH TFHLEDHHDY LLITENGSFT QPLARLTGSD
LPPTINAGLY GNFRAQLRFI SDFSISYEGF NITFSEYNLE PCEDPGIPQY GSRIGFNFGI
GDTLTFSCSS GYRLEGTSEI ICLGGGRRVW SAPLPRCVAE CGASATNNEG ILLSPNYPLN
YENNHECIYS IQVQAGKGIN ISARTFHLAQ GDVLKIYDGK DKTTHLLGAF TGASMRGLTL
SSTSNQLWLE FNSDTEGTDE GFQLVYTSFE LSHCEDPGIP QFGYKISDQG HFAGSTIIYG
CNPGYTLHGS SLLKCMTGER RAWDYPLPSC IAECGGRFKG ESSGRILSPG YPFPYDNNLR
CMWMIEVDPG NIVSLQFLAF DTEASHDILR VWDGPPENDM LLKEISGSLI PEGIHSTLNI
VTIQFDTDFY ISKSGFAIQF SSSVATACRD PGVPMNGTRN GDGREPGDTV VFQCDPGYEL
QGEERITCIQ VENRYFWQPS PPVCIAPCGG NLTGSSGFIL SPNFPHPYPH SRDCDWTITV
NADYVISLAF ISFSIEPNYD FLYIYDGPDS NSPLIGSFQD SKLPERIESS SNTMHLAFRS
DGSVSYTGFH LEYKAKLRES CFDPGNIMNG TRLGMDYKLG STVTYYCDAG YVLQGYSTLT
CIMGDDGRPG WNRALPSCHA PCGSRSTGSE GTVLSPNYPK NYSVGHNCVY SIAVPKEFAV
PRTSSTQCSS VPEPRFGRRI GNEFAVGSSV LFDCNPGYIL HGSIAIRCET VPNSLAQWND
SLPTCIVPCG GILTKRKGTI LSPGYPEPYD NNLNCVWKIT VPEGAGIQVQ VVSFATEHNW
DSLDFYDGGD NNAPRLGSYS GTTIPHLLNS TSNNLYLNFQ SDISVSAAGF HLEYTAIGLD
SCPEPQTPSS GIKIGDRYMV GDVVSFQCDQ GYSLQGHSHI TCMPGPVRRW NYPIPICLAQ
CGGAMSDFSG VILSPGFPGN YPSSLDCTWT INLPIGFGVH LQFVNFSTET IHDYLEVRSG
SSETSTVIGR LSGPQIPSSL FSTTHETSLY FHSDYSQNKQ GFHIVYQAYQ LQSCPDPRPF
RNGFVIGNDF TVGQTISFEC FPGYTLIGNS ALTCLHGVSR NWNHPLPRCE ALCGGNITAM
NGTIYSPGYP DEYPNFQDCF WLVRVPPGNG IYINFTVLQT EPIYDFITVW DGPDQNSPQI
GQFSGNTALE SVYSTSNQIL IKFHSDFTTS GFFVLSYHAY QLRVCQPPPP VPNAEILTED
DEFEIGDIIR YQCLPGFTLV GNAILTCRLG ERLQMDGAPP VCQVLCPANE LRLDSTGVIL
SPGYPDSYPN LQMCAWSISV EKGYNITMFV EFFQTEKEFD VLQVYDGPNI QSPVLISLSG
DYSSAFNITS NGHEVFLQWS ADHGNNKKGF RIRYIAFYCS TPESPPHGYI ISQTGGQLNS
VVRWACDRGF RLVGKSSAVC RKSSYGYHAW DAPVPACQAI SCGIPKAPTN GGILTTDYLV
GTRVTYFCND GYRLSSKELT TAVCQSDGTW SNHNKTPRCV VVTCPSINSF ILEHGRWRIV
NGSHYEYKTK VVFSCDPGYH GLGPASIECL PNGTWSWRNE RPYCQIISCG ELPTPPNGNK
IGTQTSYGST AIFTCDLGFM LVGSAVRECL SSGLWSESET RCLAGHCGIP ELIVNGQVIG
ENYGYRDTVV YQCNPGFRLI GSSVRICQQD HNWSGQLPSC VPVSCGHPGS PIYGRTSGNG
FNFNDVVTFS CNIGYLMQGP TKAQCQANRQ WSHPPPMCKV VNCSDPGIPA NSKRESKIEH
GNFTYGTVVF YDCNPGYFLF GSSVLICQPN GQWDKPLPEC IMIDCGHPGV PPNAVLSGEK
YTFGSTVHYS CTGKRSLLGQ SSRTCQLNGH WSGSQPHCSG DATGTCGDPG TPGHGSRQES
NFRTKSTVRY ACDTGYILHG SEERTCLANG SWTGRQPECK AVQCGNPGTT ANGKVFRIDG
TTFSSSVIYS CMEGYILSGP SVRQCTANGT WSGTLPNCTI ISCGDPGIPA NGLRYGDDYV
VGQNVSYMCQ PGYTMELNGS RIRTCTINGT WSGVMPTCRA VTCPTPPQIS NGRLEGTNFD
WGFSISYICS PGYELSFPAV LTCVGNGTWS GEVPQCLPKF CGDPGIPAQG KREGKSFIYQ
SEVSFSCNFP FILVGSSTRI CQADGTWSGS SPHCIEPTQT SCENPGVPRH GSQNNTFGFQ
VGSVVQFHCK KGHLLQGSTT RTCLPDLTWS GIQPECIPHS CKQPETPAHA NVVGMDLPSH
GYTLIYTCQP GFFLAGGTEH RVCRSDNTWT GKVPICEAGS KILVKDPRPA LGTPSPKLSV
PDDVFAQNYI WKGSYNFKGR KQPMTLTVTS FNASTGRVNA TLSNSNMELL LSGVYKSQEA
RLMLRIYLIK VPAHASVKKM KEENWAMDGF VSAEPDGATY VFQGFIQGKD YGQFGLQRLG
LNMSEGSNSS NQPHGTNSSS VAIAILVPFF ALIFAGFGFY LYKQRTAPKT QYTGCSVHEN
NNGQAAFENP MYDTNAKSVE GKAVRFDPNL NTVCTMV*

mutated AA sequence

MKGIRKGESR AKESKPWEPG KRRCAKCGRL DFILMKKMGI KSGFTFWNLV FLLTVSCVKG
FIYTCGGTLK GLNGTIESPG FPYGYPNGAN CTWVIIAEER NRIQIVFQSF ALEEEYDYLS
LYDGHPHPTN FRTRLTGFHL PPPVTSTKSV FSLRLTSDFA VSAHGFKVYY EELQSSSCGN
PGVPPKGVLY GTRFDVGDKI RYSCVTGYIL DGHPQLTCIA NSVNTASWDF PVPICRAEDA
CGGTMRGSSG IISSPSFPNE YHNNADCTWT IVAEPGDTIS LIFTDFQMEE KYDYLEIEGS
EPPTIWLSGM NIPPPIISNK NWLRLHFVTD SNHRYRGFSA PYQGSSTLTH TTSTGELEEH
NRTTTGAIAV ASTPADVTVS SVTAVTIHRL SEEQRVQVTS LRNSGLDPNT SKDGLSPHPA
DTQSTRRRPR HAEQIERTKE LAVVTHRVKK AIDFKSRGFK LFPGKDNSNK FSILNEGGIK
TASNLCPDPG EPENGKRIGS DFSLGSTVQF SCDEDYVLQG AKSITCQRIA EVFAAWSDHR
PVCKVKTCGS NLQGPSGTFT SPNFPFQYDS NAQCVWVITA VNTNKVIQIN FEEFDLEIGY
DTLTIGDGGE VGDPRTVLQV LTGSFVPDLI VSMSSQMWLH LQTDESVGSV GFKVNYKEIE
KESCGDPGTP LYGIREGDGF SNRDVLRFEC QFGFELIGEK SIVCQENNQW SANIPICIFP
CLSNFTAPMG TVLSPDYPEG YGNNLNCIWT IISDPGSRIH LSFNDFDLES QFDFLAVKDG
DSPESPILGT FTGAEVPSHL TSNSHILRLE FQADHSMSGR GFNITYNTFG HNECPDPGIP
INARRFGDNF QLGSSISVIC EEGFIKTQGT ETITCILMDG KVMWSGLIPK CGAPCGGHFS
APSGVILSPG WPGYYKDSLN CEWVIEAEPG HSIKITFERF QTELNYDVLE VHDGPNLLSP
LLGSYNGTQV PQFLFSSSNF IYLLFTTDNS RSNNGFKIHY ESVTVNTYSC LDPGIPVHGR
RYGHDFSIGS TVSFSCDSGY RLSHEEPLLC EKNHWWSHPL PTCDALCGGD VRGPSGTILS
PGYPEFYPNS LNCTWTVDVT HGKGVQFNFH TFHLEDHHDY LLITENGSFT QPLARLTGSD
LPPTINAGLY GNFRAQLRFI SDFSISYEGF NITFSEYNLE PCEDPGIPQY GSRIGFNFGI
GDTLTFSCSS GYRLEGTSEI ICLGGGRRVW SAPLPRCVAE CGASATNNEG ILLSPNYPLN
YENNHECIYS IQVQAGKGIN ISARTFHLAQ GDVLKIYDGK DKTTHLLGAF TGASMRGLTL
SSTSNQLWLE FNSDTEGTDE GFQLVYTSFE LSHCEDPGIP QFGYKISDQG HFAGSTIIYG
CNPGYTLHGS SLLKCMTGER RAWDYPLPSC IAECGGRFKG ESSGRILSPG YPFPYDNNLR
CMWMIEVDPG NIVSLQFLAF DTEASHDILR VWDGPPENDM LLKEISGSLI PEGIHSTLNI
VTIQFDTDFY ISKSGFAIQF SSSVATACRD PGVPMNGTRN GDGREPGDTV VFQCDPGYEL
QGEERITCIQ VENRYFWQPS PPVCIAPCGG NLTGSSGFIL SPNFPHPYPH SRDCDWTITV
NADYVISLAF ISFSIEPNYD FLYIYDGPDS NSPLIGSFQD SKLPERIESS SNTMHLAFRS
DGSVSYTGFH LEYKAKLRES CFDPGNIMNG TRLGMDYKLG STVTYYCDAG YVLQGYSTLT
CIMGDDGRPG WNRALPSCHA PCGSRSTGSE GTVLSPNYPK NYSVGHNCVY SIAVPKEFAV
PRTSSTQCSS VPEPRFGRRI GNEFAVGSSV LFDCNPGYIL HGSIAIRCET VPNSLAQWND
SLPTCIVPCG GILTKRKGTI LSPGYPEPYD NNLNCVWKIT VPEGAGIQVQ VVSFATEHNW
DSLDFYDGGD NNAPRLGSYS GTTIPHLLNS TSNNLYLNFQ SDISVSAAGF HLEYTAIGLD
SCPEPQTPSS GIKIGDRYMV GDVVSFQCDQ GYSLQGHSHI TCMPGPVRRW NYPIPICLAQ
CGGAMSDFSG VILSPGFPGN YPSSLDCTWT INLPIGFGVH LQFVNFSTET IHDYLEVRSG
SSETSTVIGR LSGPQIPSSL FSTTHETSLY FHSDYSQNKQ GFHIVYQAYQ LQSCPDPRPF
RNGFVIGNDF TVGQTISFEC FPGYTLIGNS ALTCLHGVSR NWNHPLPRCE ALCGGNITAM
NGTIYSPGYP DEYPNFQDCF WLVRVPPGNG IYINFTVLQT EPIYDFITVW DGPDQNSPQI
GQFSGNTALE SVYSTSNQIL IKFHSDFTTS GFFVLSYHAY QLRVCQPPPP VPNAEILTED
DEFEIGDIIR YQCLPGFTLV GNAILTCRLG ERLQMDGAPP VCQVLCPANE LRLDSTGVIL
SPGYPDSYPN LQMCAWSISV EKGYNITMFV EFFQTEKEFD VLQVYDGPNI QSPVLISLSG
DYSSAFNITS NGHEVFLQWS ADHGNNKKGF RIRYIAFYCS TPESPPHGYI ISQTGGQLNS
VVRWACDRGF RLVGKSSAVC RKSSYGYHAW DAPVPACQAI SCGIPKAPTN GGILTTDYLV
GTRVTYFCND GYRLSSKELT TAVCQSDGTW SNHNKTPRCV VVTCPSINSF ILEHGRWRIV
NGSHYEYKTK VVFSCDPGYH GLGPASIECL PNGTWSWRNE RPYCQIISCG ELPTPPNGNK
IGTQTSYGST AIFTCDLGFM LVGSAVRECL SSGLWSESET RCLAGHCGIP ELIVNGQVIG
ENYGYRDTVV YQCNPGFRLI GSSVRICQQD HNWSGQLPSC VPVSCGHPGS PIYGRTSGNG
FNFNDVVTFS CNIGYLMQGP TKAQCQANRQ WSHPPPMCKV VNCSDPGIPA NSKRESKIEH
GNFTYGTVVF YDCNPGYFLF GSSVLICQPN GQWDKPLPEC IMIDCGHPGV PPNAVLSGEK
YTFGSTVHYS CTGKRSLLGQ SSRTCQLNGH WSGSQPHCSG DATGTCGDPG TPGHGSRQES
NFRTKSTVRY ACDTGYILHG SEERTCLANG SWTGRQPECK AVQCGNPGTT ANGKVFRIDG
TTFSSSVIYS CMEGYILSGP SVRQCTANGT WSGTLPNCTI ISCGDPGIPA NGLRYGDDYV
VGQNVSYMCQ PGYTMELNGS RIRTCTINGT WSGVMPTCRA VTCPTPPQIS NGRLEGTNFD
WGFSISYICS PGYELSFPAV LTCVGNGTWS GEVPQCLPKF CGDPGIPAQG KREGKSFIYQ
SEVSFSCNFP FILVGSSTRI CQADGTWSGS SPHCIEPTQT SCENPGVPRH GSQNNTFGFQ
VGSVVQFHCK KGHLLQGSTT RTCLPDLTWS GIQPECIPHS CKQPETPAHA NVVGMDLPSH
GYTLIYTCQP GFFLAGGTEH RVCRSDNTWT GKVPICEAGS KILVKDPRPA LGTPSPKLSV
PDDVFAQNYI WKGSYNFKGR KQPMTLTVTS FNASTGRVNA TLSNSNMELL LSGVYKSQEA
RLMLRIYLIK VPAHASVKKM KEENWAMDGF VSAEPDGATY VFQGFIQGKD YGQFGLQRLG
LNMSEGSNSS HQPHGTNSSS VAIAILVPFF ALIFAGFGFY LYKQRTAPKT QYTGCSVHEN
NNGQAAFENP MYDTNAKSVE GKAVRFDPNL NTVCTMV*

speed

0.90 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.00419693154532728 (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)

chr8:113241088T>GN/A show variant in all transcripts IGV

HGNC symbol

CSMD3

Ensembl transcript ID

ENST00000455883

Genbank transcript ID

NM_052900

UniProt peptide

Q7Z407

alteration type

single base exchange

alteration region

CDS

DNA changes

c.10354A>C
cDNA.10383A>C
g.1208241A>C

AA changes

N3452H Score: 68 explain score(s)

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

3452

frameshift

known variant

Reference ID: rs1592624

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1356	855	2211
ExAC	23617	-14467	9150

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.576	1
	2.576	0.996
(flanking)	-0.637	0.749

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	1208241	wt: 0.3594 / mu: 0.4057 (marginal change - not scored)	wt: CAGAAGGTTCAAATTCTTCAAATCAACCTCATGGTACAAAT mu: CAGAAGGTTCAAATTCTTCACATCAACCTCATGGTACAAAT	tcaa\|ATCA
Acc increased	1208245	wt: 0.41 / mu: 0.89	wt: AGGTTCAAATTCTTCAAATCAACCTCATGGTACAAATAGTA mu: AGGTTCAAATTCTTCACATCAACCTCATGGTACAAATAGTA	atca\|ACCT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

3452

mutated

all conserved

3452

Ptroglodytes

all identical

ENSPTRG00000020517

3621

Mmulatta

all identical

ENSMMUG00000007342

3621

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000022311

3621

Ggallus

all identical

ENSGALG00000016111

3276

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000025787

2730

protein features

start (aa)	end (aa)	feature	details
64	3630	TOPO_DOM	Extracellular (Potential).	lost
3409	3468	DOMAIN	Sushi 28.	lost
3453	3453	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3466	3466	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3522	3522	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
3529	3529	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
3612	3612	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
3618	3618	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
3627	3627	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
3631	3651	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
3652	3707	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

10617 / 10617

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

3539 / 3539

position of stopcodon in wt / mu cDNA

10646 / 10646

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

30 / 30

chromosome

strand

-1

last intron/exon boundary

10487

theoretical NMD boundary in CDS

10407

length of CDS

10617

coding sequence (CDS) position

10354

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

10383

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

1208241

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

113241088

original gDNA sequence snippet

CAGAAGGTTCAAATTCTTCAAATCAACCTCATGGTACAAAT

altered gDNA sequence snippet

CAGAAGGTTCAAATTCTTCACATCAACCTCATGGTACAAAT

original cDNA sequence snippet

CAGAAGGTTCAAATTCTTCAAATCAACCTCATGGTACAAAT

altered cDNA sequence snippet

CAGAAGGTTCAAATTCTTCACATCAACCTCATGGTACAAAT

wildtype AA sequence

MKGIRKGESR AKESKPWEPG KRRCAKCGRL DFILMKKMGI KSGFTFWNLV FLLTVSCVKG
FIYTCGGTLK GLNGTIESPG FPYGYPNGAN CTWVIIAEER NRIQIVFQSF ALEEEYDYLS
LYDGHPHPTN FRTRLTGFHL PPPVTSTKSV FSLRLTSDFA VSAHGFKVYY EELQSSSCGN
PGVPPKGVLY GTRFDVGDKI RYSCVTGYIL DGHPQLTCIA NSVNTASWDF PVPICRAEDA
CGGTMRGSSG IISSPSFPNE YHNNADCTWT IVAEPGDTIS LIFTDFQMEE KYDYLEIEGS
EPPTIWLSGM NIPPPIISNK NWLRLHFVTD SNHRYRGFSA PYQVKKAIDF KSRGFKLFPG
KDNSNKFSIL NEGGIKTASN LCPDPGEPEN GKRIGSDFSL GSTVQFSCDE DYVLQGAKSI
TCQRIAEVFA AWSDHRPVCK VKTCGSNLQG PSGTFTSPNF PFQYDSNAQC VWVITAVNTN
KVIQINFEEF DLEIGYDTLT IGDGGEVGDP RTVLQVLTGS FVPDLIVSMS SQMWLHLQTD
ESVGSVGFKV NYKEIEKESC GDPGTPLYGI REGDGFSNRD VLRFECQFGF ELIGEKSIVC
QENNQWSANI PICIFPCLSN FTAPMGTVLS PDYPEGYGNN LNCIWTIISD PGSRIHLSFN
DFDLESQFDF LAVKDGDSPE SPILGTFTGA EVPSHLTSNS HILRLEFQAD HSMSGRGFNI
TYNTFGHNEC PDPGIPINAR RFGDNFQLGS SISVICEEGF IKTQGTETIT CILMDGKVMW
SGLIPKCGAP CGGHFSAPSG VILSPGWPGY YKDSLNCEWV IEAEPGHSIK ITFERFQTEL
NYDVLEVHDG PNLLSPLLGS YNGTQVPQFL FSSSNFIYLL FTTDNSRSNN GFKIHYESVT
VNTYSCLDPG IPVHGRRYGH DFSIGSTVSF SCDSGYRLSH EEPLLCEKNH WWSHPLPTCD
ALCGGDVRGP SGTILSPGYP EFYPNSLNCT WTVDVTHGKG VQFNFHTFHL EDHHDYLLIT
ENGSFTQPLA RLTGSDLPPT INAGLYGNFR AQLRFISDFS ISYEGFNITF SEYNLEPCED
PGIPQYGSRI GFNFGIGDTL TFSCSSGYRL EGTSEIICLG GGRRVWSAPL PRCVAECGAS
ATNNEGILLS PNYPLNYENN HECIYSIQVQ AGKGINISAR TFHLAQGDVL KIYDGKDKTT
HLLGAFTGAS MRGLTLSSTS NQLWLEFNSD TEGTDEGFQL VYTSFELSHC EDPGIPQFGY
KISDQGHFAG STIIYGCNPG YTLHGSSLLK CMTGERRAWD YPLPSCIAEC GGRFKGESSG
RILSPGYPFP YDNNLRCMWM IEVDPGNIVS LQFLAFDTEA SHDILRVWDG PPENDMLLKE
ISGSLIPEGI HSTLNIVTIQ FDTDFYISKS GFAIQFSSSV ATACRDPGVP MNGTRNGDGR
EPGDTVVFQC DPGYELQGEE RITCIQVENR YFWQPSPPVC IAPCGGNLTG SSGFILSPNF
PHPYPHSRDC DWTITVNADY VISLAFISFS IEPNYDFLYI YDGPDSNSPL IGSFQDSKLP
ERIESSSNTM HLAFRSDGSV SYTGFHLEYK AKLRESCFDP GNIMNGTRLG MDYKLGSTVT
YYCDAGYVLQ GYSTLTCIMG DDGRPGWNRA LPSCHAPCGS RSTGSEGTVL SPNYPKNYSV
GHNCVYSIAV PKEFVVFGQF VFFQTSLHDV VEVYDGPTQQ SSLLSSLSGS HSGESLPLSS
GNQITIRFTS VGPITAKGFH FVYQAVPRTS STQCSSVPEP RFGRRIGNEF AVGSSVLFDC
NPGYILHGSI AIRCETVPNS LAQWNDSLPT CIVPCGGILT KRKGTILSPG YPEPYDNNLN
CVWKITVPEG AGIQVQVVSF ATEHNWDSLD FYDGGDNNAP RLGSYSGTTI PHLLNSTSNN
LYLNFQSDIS VSAAGFHLEY TAIGLDSCPE PQTPSSGIKI GDRYMVGDVV SFQCDQGYSL
QGHSHITCMP GPVRRWNYPI PICLAQCGGA MSDFSGVILS PGFPGNYPSS LDCTWTINLP
IGFGVHLQFV NFSTETIHDY LEVRSGSSET STVIGRLSGP QIPSSLFSTT HETSLYFHSD
YSQNKQGFHI VYQAYQLQSC PDPRPFRNGF VIGNDFTVGQ TISFECFPGY TLIGNSALTC
LHGVSRNWNH PLPRCEALCG GNITAMNGTI YSPGYPDEYP NFQDCFWLVR VPPGNGIYIN
FTVLQTEPIY DFITVWDGPD QNSPQIGQFS GNTALESVYS TSNQILIKFH SDFTTSGFFV
LSYHAYQLRV CQPPPPVPNA EILTEDDEFE IGDIIRYQCL PGFTLVGNAI LTCRLGERLQ
MDGAPPVCQV LCPANELRLD STGVILSPGY PDSYPNLQMC AWSISVEKGY NITMFVEFFQ
TEKEFDVLQV YDGPNIQSPV LISLSGDYSS AFNITSNGHE VFLQWSADHG NNKKGFRIRY
IAFYCSTPES PPHGYIISQT GGQLNSVVRW ACDRGFRLVG KSSAVCRKSS YGYHAWDAPV
PACQAISCGI PKAPTNGGIL TTDYLVGTRV TYFCNDGYRL SSKELTTAVC QSDGTWSNHN
KTPRCVVISC GELPTPPNGN KIGTQTSYGS TAIFTCDLGF MLVGSAVREC LSSGLWSESE
TRCLAGHCGI PELIVNGQVI GENYGYRDTV VYQCNPGFRL IGSSVRICQQ DHNWSGQLPS
CVPVSCGHPG SPIYGRTSGN GFNFNDVVTF SCNIGYLMQG PTKAQCQANR QWSHPPPMCK
VVNCSDPGIP ANSKRESKIE HGNFTYGTVV FYDCNPGYFL FGSSVLICQP NGQWDKPLPE
CIMIDCGHPG VPPNAVLSGE KYTFGSTVHY SCTGKRSLLG QSSRTCQLNG HWSGSQPHCS
GDATGTCGDP GTPGHGSRQE SNFRTKSTVR YACDTGYILH GSEERTCLAN GSWTGRQPEC
KAVQCGNPGT TANGKVFRID GTTFSSSVIY SCMEGYILSG PSVRQCTANG TWSGTLPNCT
IISCGDPGIP ANGLRYGDDY VVGQNVSYMC QPGYTMELNG SRIRTCTING TWSGVMPTCR
AVTCPTPPQI SNGRLEGTNF DWGFSISYIC SPGYELSFPA VLTCVGNGTW SGEVPQCLPK
FCGDPGIPAQ GKREGKSFIY QSEVSFSCNF PFILVGSSTR ICQADGTWSG SSPHCIEPTQ
TSCENPGVPR HGSQNNTFGF QVGSVVQFHC KKGHLLQGST TRTCLPDLTW SGIQPECIPH
SCKQPETPAH ANVVGMDLPS HGYTLIYTCQ PGFFLAGGTE HRVCRSDNTW TGKVPICEAG
SKILVKDPRP ALGTPSPKLS VPDDVFAQNY IWKGSYNFKG RKQPMTLTVT SFNASTGRVN
ATLSNSNMEL LLSGVYKSQE ARLMLRIYLI KVPAHASVKK MKEENWAMDG FVSAEPDGAT
YVFQGFIQGK DYGQFGLQRL GLNMSEGSNS SNQPHGTNSS SVAIAILVPF FALIFAGFGF
YLYKQRTAPK TQYTGCSVHE NNNGQAAFEN PMYDTNAKSV EGKAVRFDPN LNTVCTMV*

mutated AA sequence

MKGIRKGESR AKESKPWEPG KRRCAKCGRL DFILMKKMGI KSGFTFWNLV FLLTVSCVKG
FIYTCGGTLK GLNGTIESPG FPYGYPNGAN CTWVIIAEER NRIQIVFQSF ALEEEYDYLS
LYDGHPHPTN FRTRLTGFHL PPPVTSTKSV FSLRLTSDFA VSAHGFKVYY EELQSSSCGN
PGVPPKGVLY GTRFDVGDKI RYSCVTGYIL DGHPQLTCIA NSVNTASWDF PVPICRAEDA
CGGTMRGSSG IISSPSFPNE YHNNADCTWT IVAEPGDTIS LIFTDFQMEE KYDYLEIEGS
EPPTIWLSGM NIPPPIISNK NWLRLHFVTD SNHRYRGFSA PYQVKKAIDF KSRGFKLFPG
KDNSNKFSIL NEGGIKTASN LCPDPGEPEN GKRIGSDFSL GSTVQFSCDE DYVLQGAKSI
TCQRIAEVFA AWSDHRPVCK VKTCGSNLQG PSGTFTSPNF PFQYDSNAQC VWVITAVNTN
KVIQINFEEF DLEIGYDTLT IGDGGEVGDP RTVLQVLTGS FVPDLIVSMS SQMWLHLQTD
ESVGSVGFKV NYKEIEKESC GDPGTPLYGI REGDGFSNRD VLRFECQFGF ELIGEKSIVC
QENNQWSANI PICIFPCLSN FTAPMGTVLS PDYPEGYGNN LNCIWTIISD PGSRIHLSFN
DFDLESQFDF LAVKDGDSPE SPILGTFTGA EVPSHLTSNS HILRLEFQAD HSMSGRGFNI
TYNTFGHNEC PDPGIPINAR RFGDNFQLGS SISVICEEGF IKTQGTETIT CILMDGKVMW
SGLIPKCGAP CGGHFSAPSG VILSPGWPGY YKDSLNCEWV IEAEPGHSIK ITFERFQTEL
NYDVLEVHDG PNLLSPLLGS YNGTQVPQFL FSSSNFIYLL FTTDNSRSNN GFKIHYESVT
VNTYSCLDPG IPVHGRRYGH DFSIGSTVSF SCDSGYRLSH EEPLLCEKNH WWSHPLPTCD
ALCGGDVRGP SGTILSPGYP EFYPNSLNCT WTVDVTHGKG VQFNFHTFHL EDHHDYLLIT
ENGSFTQPLA RLTGSDLPPT INAGLYGNFR AQLRFISDFS ISYEGFNITF SEYNLEPCED
PGIPQYGSRI GFNFGIGDTL TFSCSSGYRL EGTSEIICLG GGRRVWSAPL PRCVAECGAS
ATNNEGILLS PNYPLNYENN HECIYSIQVQ AGKGINISAR TFHLAQGDVL KIYDGKDKTT
HLLGAFTGAS MRGLTLSSTS NQLWLEFNSD TEGTDEGFQL VYTSFELSHC EDPGIPQFGY
KISDQGHFAG STIIYGCNPG YTLHGSSLLK CMTGERRAWD YPLPSCIAEC GGRFKGESSG
RILSPGYPFP YDNNLRCMWM IEVDPGNIVS LQFLAFDTEA SHDILRVWDG PPENDMLLKE
ISGSLIPEGI HSTLNIVTIQ FDTDFYISKS GFAIQFSSSV ATACRDPGVP MNGTRNGDGR
EPGDTVVFQC DPGYELQGEE RITCIQVENR YFWQPSPPVC IAPCGGNLTG SSGFILSPNF
PHPYPHSRDC DWTITVNADY VISLAFISFS IEPNYDFLYI YDGPDSNSPL IGSFQDSKLP
ERIESSSNTM HLAFRSDGSV SYTGFHLEYK AKLRESCFDP GNIMNGTRLG MDYKLGSTVT
YYCDAGYVLQ GYSTLTCIMG DDGRPGWNRA LPSCHAPCGS RSTGSEGTVL SPNYPKNYSV
GHNCVYSIAV PKEFVVFGQF VFFQTSLHDV VEVYDGPTQQ SSLLSSLSGS HSGESLPLSS
GNQITIRFTS VGPITAKGFH FVYQAVPRTS STQCSSVPEP RFGRRIGNEF AVGSSVLFDC
NPGYILHGSI AIRCETVPNS LAQWNDSLPT CIVPCGGILT KRKGTILSPG YPEPYDNNLN
CVWKITVPEG AGIQVQVVSF ATEHNWDSLD FYDGGDNNAP RLGSYSGTTI PHLLNSTSNN
LYLNFQSDIS VSAAGFHLEY TAIGLDSCPE PQTPSSGIKI GDRYMVGDVV SFQCDQGYSL
QGHSHITCMP GPVRRWNYPI PICLAQCGGA MSDFSGVILS PGFPGNYPSS LDCTWTINLP
IGFGVHLQFV NFSTETIHDY LEVRSGSSET STVIGRLSGP QIPSSLFSTT HETSLYFHSD
YSQNKQGFHI VYQAYQLQSC PDPRPFRNGF VIGNDFTVGQ TISFECFPGY TLIGNSALTC
LHGVSRNWNH PLPRCEALCG GNITAMNGTI YSPGYPDEYP NFQDCFWLVR VPPGNGIYIN
FTVLQTEPIY DFITVWDGPD QNSPQIGQFS GNTALESVYS TSNQILIKFH SDFTTSGFFV
LSYHAYQLRV CQPPPPVPNA EILTEDDEFE IGDIIRYQCL PGFTLVGNAI LTCRLGERLQ
MDGAPPVCQV LCPANELRLD STGVILSPGY PDSYPNLQMC AWSISVEKGY NITMFVEFFQ
TEKEFDVLQV YDGPNIQSPV LISLSGDYSS AFNITSNGHE VFLQWSADHG NNKKGFRIRY
IAFYCSTPES PPHGYIISQT GGQLNSVVRW ACDRGFRLVG KSSAVCRKSS YGYHAWDAPV
PACQAISCGI PKAPTNGGIL TTDYLVGTRV TYFCNDGYRL SSKELTTAVC QSDGTWSNHN
KTPRCVVISC GELPTPPNGN KIGTQTSYGS TAIFTCDLGF MLVGSAVREC LSSGLWSESE
TRCLAGHCGI PELIVNGQVI GENYGYRDTV VYQCNPGFRL IGSSVRICQQ DHNWSGQLPS
CVPVSCGHPG SPIYGRTSGN GFNFNDVVTF SCNIGYLMQG PTKAQCQANR QWSHPPPMCK
VVNCSDPGIP ANSKRESKIE HGNFTYGTVV FYDCNPGYFL FGSSVLICQP NGQWDKPLPE
CIMIDCGHPG VPPNAVLSGE KYTFGSTVHY SCTGKRSLLG QSSRTCQLNG HWSGSQPHCS
GDATGTCGDP GTPGHGSRQE SNFRTKSTVR YACDTGYILH GSEERTCLAN GSWTGRQPEC
KAVQCGNPGT TANGKVFRID GTTFSSSVIY SCMEGYILSG PSVRQCTANG TWSGTLPNCT
IISCGDPGIP ANGLRYGDDY VVGQNVSYMC QPGYTMELNG SRIRTCTING TWSGVMPTCR
AVTCPTPPQI SNGRLEGTNF DWGFSISYIC SPGYELSFPA VLTCVGNGTW SGEVPQCLPK
FCGDPGIPAQ GKREGKSFIY QSEVSFSCNF PFILVGSSTR ICQADGTWSG SSPHCIEPTQ
TSCENPGVPR HGSQNNTFGF QVGSVVQFHC KKGHLLQGST TRTCLPDLTW SGIQPECIPH
SCKQPETPAH ANVVGMDLPS HGYTLIYTCQ PGFFLAGGTE HRVCRSDNTW TGKVPICEAG
SKILVKDPRP ALGTPSPKLS VPDDVFAQNY IWKGSYNFKG RKQPMTLTVT SFNASTGRVN
ATLSNSNMEL LLSGVYKSQE ARLMLRIYLI KVPAHASVKK MKEENWAMDG FVSAEPDGAT
YVFQGFIQGK DYGQFGLQRL GLNMSEGSNS SHQPHGTNSS SVAIAILVPF FALIFAGFGF
YLYKQRTAPK TQYTGCSVHE NNNGQAAFEN PMYDTNAKSV EGKAVRFDPN LNTVCTMV*

speed

0.62 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

Problems