No paralogue variants have been mapped to residue 1717 for SCN5A.
SCN5A | -IDDMFNFQTFANSMLCLFQITTSAGWDGL>L<SPILNTGPPYCDPTLPN-S-NGSRGD---C | 1742 |
SCN1A | -IDDMFNFETFGNSMICLFQITTSAGWDGL>L<APILNSKPPDCDPNKVN-PGSSVKGD---C | 1756 |
SCN2A | -IDDMFNFETFGNSMICLFQITTSAGWDGL>L<APILNSGPPDCDPDKDH-PGSSVKGD---C | 1746 |
SCN3A | -IDDMFNFETFGNSMICLFQITTSAGWDGL>L<APILNSAPPDCDPDTIH-PGSSVKGD---C | 1741 |
SCN4A | -IDDMFNFETFGNSIICLFEITTSAGWDGL>L<NPILNSGPPDCDPNLEN-PGTSVKGD---C | 1568 |
SCN7A | -INDVSNFETFGNSMLCLFQVAIFAGWDGM>L<DAIFNSKWSDCDPDKIN-PGTQVRGD---C | 1466 |
SCN8A | -IDDMFNFETFGNSMICLFQITTSAGWDGL>L<LPILN-RPPDCSLDKEH-PGSGFKGD---C | 1736 |
SCN9A | -INDMFNFETFGNSMICLFQITTSAGWDGL>L<APILNSKPPDCDPKKVH-PGSSVEGD---C | 1719 |
SCN10A | -IDDMFNFQTFANSMLCLFQITTSAGWDGL>L<SPILNTGPPYCDPNLPN-S-NGTRGD---C | 1692 |
SCN11A | -IDDIFNFKTFASSMLCLFQISTSAGWDSL>L<SPMLRSKES-CN---------SSSEN---C | 1574 |
CACNA1A | QITEHNNFRTFFQALMLLFRSATGEAWHNI>M<LSCLSG--KPCDKNSGIL-----T-R--EC | 1782 |
CACNA1B | -INRHNNFRTFLQALMLLFRSATGEAWHEI>M<LSCLSN--QACDE---Q------A-NATEC | 1680 |
CACNA1C | -INRNNNFQTFPQAVLLLFRCATGEAWQDI>M<LACMPG--KKCAPESEP-SNSTEGETP--C | 1447 |
CACNA1D | -INRNNNFQTFPQAVLLLFRCATGEAWQEI>M<LACLPG--KLCDPESDY--NPGE-EYT--C | 1455 |
CACNA1E | -INRHNNFRSFFGSLMLLFRSATGEAWQEI>M<LSCLGE--KGCEPDTTAPSGQNEN-E--RC | 1694 |
CACNA1F | -INRNNNFQTFPQAVLLLFRCATGEAWQEI>M<LASLPG--NRCDPESDF--GPGE-EFT--C | 1412 |
CACNA1G | GLGRHATFRNFGMAFLTLFRVSTGDNWNGI>M<KDTLRD----CDQEST-----C-------Y | 1822 |
CACNA1H | GLSRHATFSNFGMAFLTLFRVSTGDNWNGI>M<KDTLRE----CSREDKH----C---LS--Y | 1831 |
CACNA1I | GMSRHATFENFGMAFLTLFQVSTGDNWNGI>M<KDTLRD----CTHDERS----C---LS--S | 1701 |
CACNA1S | -INRNNNFQTFPQAVLLLFRCATGEAWQEI>L<LACSYG--KLCDPESDY--APGE-EYT--C | 1352 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L1717P | c.5150T>C | Inherited Arrhythmia | BrS | SIFT: deleterious Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | BrS | Spectrum and Prevalence of Mutations Involving BrS1- Through BrS12-Susceptibility Genes in a Cohort of Unrelated Patients Referred for Brugada Syndrome Genetic Testing: Implications for Genetic Testing. J Am Coll Cardiol. 2012 60(15):1410-8. doi: 10.1016/j.jacc.2012.04.037. 22840528 |