No paralogue variants have been mapped to residue 1698 for SCN5A.
SCN5A | NFAYVKW-----EAG-----IDDMFNFQTF>A<NSMLCLFQITTSAGWDGLLSPILNTGPPYC | 1728 |
SCN1A | NFAYVKR-----EVG-----IDDMFNFETF>G<NSMICLFQITTSAGWDGLLAPILNSKPPDC | 1741 |
SCN2A | NFAYVKR-----EVG-----IDDMFNFETF>G<NSMICLFQITTSAGWDGLLAPILNSGPPDC | 1731 |
SCN3A | NFAYVKK-----EAG-----IDDMFNFETF>G<NSMICLFQITTSAGWDGLLAPILNSAPPDC | 1726 |
SCN4A | NFAYVKK-----ESG-----IDDMFNFETF>G<NSIICLFEITTSAGWDGLLNPILNSGPPDC | 1553 |
SCN7A | NFAYVKK-----EAG-----INDVSNFETF>G<NSMLCLFQVAIFAGWDGMLDAIFNSKWSDC | 1451 |
SCN8A | NFAYVKH-----EAG-----IDDMFNFETF>G<NSMICLFQITTSAGWDGLLLPILN-RPPDC | 1721 |
SCN9A | NFAYVKK-----EDG-----INDMFNFETF>G<NSMICLFQITTSAGWDGLLAPILNSKPPDC | 1704 |
SCN10A | SFPHVRW-----EAG-----IDDMFNFQTF>A<NSMLCLFQITTSAGWDGLLSPILNTGPPYC | 1678 |
SCN11A | WFSKVNP-----ESG-----IDDIFNFKTF>A<SSMLCLFQISTSAGWDSLLSPMLRSKES-C | 1567 |
CACNA1A | VFGNIGIDVEDEDSDEDEFQITEHNNFRTF>F<QALMLLFRSATGEAWHNIMLSCLSG--KPC | 1771 |
CACNA1B | VFGNIALDD---DTS-----INRHNNFRTF>L<QALMLLFRSATGEAWHEIMLSCLSN--QAC | 1671 |
CACNA1C | VFGKIALND---TTE-----INRNNNFQTF>P<QAVLLLFRCATGEAWQDIMLACMPG--KKC | 1431 |
CACNA1D | MFGKVAMRD---NNQ-----INRNNNFQTF>P<QAVLLLFRCATGEAWQEIMLACLPG--KLC | 1441 |
CACNA1E | VFGNIKLDE---ESH-----INRHNNFRSF>F<GSLMLLFRSATGEAWQEIMLSCLGE--KGC | 1678 |
CACNA1F | MFGKVALQD---GTQ-----INRNNNFQTF>P<QAVLLLFRCATGEAWQEIMLASLPG--NRC | 1398 |
CACNA1G | LFGDLECDET---HP--CEGLGRHATFRNF>G<MAFLTLFRVSTGDNWNGIMKDTLRD----C | 1815 |
CACNA1H | LFGRLECSED---NP--CEGLSRHATFSNF>G<MAFLTLFRVSTGDNWNGIMKDTLRE----C | 1821 |
CACNA1I | LFGKLVCNDE---NP--CEGMSRHATFENF>G<MAFLTLFQVSTGDNWNGIMKDTLRD----C | 1691 |
CACNA1S | MFGKIALVD---GTQ-----INRNNNFQTF>P<QAVLLLFRCATGEAWQEILLACSYG--KLC | 1338 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1698T | c.5092G>A | Inherited Arrhythmia | BrS | rs199473295 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | BrS | An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283 |