Paralogue Annotation for SCN5A residue 1703

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1703
Reference Amino Acid: C - Cysteine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1703

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AC1716RMyoclonic epilepsy of infancyHigh9 17561957
CACNA1FL1375HNight blindness, congenital stationary, incompleteMedium9 9662399, 16476079

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.



SCN5AKW-----EAG-----IDDMFNFQTFANSML>C<LFQITTSAGWDGLLSPILNTGPPYCDPTLP1733
SCN1AKR-----EVG-----IDDMFNFETFGNSMI>C<LFQITTSAGWDGLLAPILNSKPPDCDPNKV1746
SCN2AKR-----EVG-----IDDMFNFETFGNSMI>C<LFQITTSAGWDGLLAPILNSGPPDCDPDKD1736
SCN3AKK-----EAG-----IDDMFNFETFGNSMI>C<LFQITTSAGWDGLLAPILNSAPPDCDPDTI1731
SCN4AKK-----ESG-----IDDMFNFETFGNSII>C<LFEITTSAGWDGLLNPILNSGPPDCDPNLE1558
SCN7AKK-----EAG-----INDVSNFETFGNSML>C<LFQVAIFAGWDGMLDAIFNSKWSDCDPDKI1456
SCN8AKH-----EAG-----IDDMFNFETFGNSMI>C<LFQITTSAGWDGLLLPILN-RPPDCSLDKE1726
SCN9AKK-----EDG-----INDMFNFETFGNSMI>C<LFQITTSAGWDGLLAPILNSKPPDCDPKKV1709
SCN10ARW-----EAG-----IDDMFNFQTFANSML>C<LFQITTSAGWDGLLSPILNTGPPYCDPNLP1683
SCN11ANP-----ESG-----IDDIFNFKTFASSML>C<LFQISTSAGWDSLLSPMLRSKES-CN----1568
CACNA1AGIDVEDEDSDEDEFQITEHNNFRTFFQALM>L<LFRSATGEAWHNIMLSCLSG--KPCDKNSG1776
CACNA1BALDD---DTS-----INRHNNFRTFLQALM>L<LFRSATGEAWHEIMLSCLSN--QACDE---1673
CACNA1CALND---TTE-----INRNNNFQTFPQAVL>L<LFRCATGEAWQDIMLACMPG--KKCAPESE1436
CACNA1DAMRD---NNQ-----INRNNNFQTFPQAVL>L<LFRCATGEAWQEIMLACLPG--KLCDPESD1446
CACNA1EKLDE---ESH-----INRHNNFRSFFGSLM>L<LFRSATGEAWQEIMLSCLGE--KGCEPDTT1683
CACNA1FALQD---GTQ-----INRNNNFQTFPQAVL>L<LFRCATGEAWQEIMLASLPG--NRCDPESD1403
CACNA1GECDET---HP--CEGLGRHATFRNFGMAFL>T<LFRVSTGDNWNGIMKDTLRD----CDQEST1820
CACNA1HECSED---NP--CEGLSRHATFSNFGMAFL>T<LFRVSTGDNWNGIMKDTLRE----CSREDK1826
CACNA1IVCNDE---NP--CEGMSRHATFENFGMAFL>T<LFQVSTGDNWNGIMKDTLRD----CTHDER1696
CACNA1SALVD---GTQ-----INRNNNFQTFPQAVL>L<LFRCATGEAWQEILLACSYG--KLCDPESD1343
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Cys1703Tyrc.5108G>A UnknownSIFT:
Polyphen: