No paralogue variants have been mapped to residue 1692 for SCN5A.
SCN5A | SIFGMANFAYVKW-----EAG-----IDDM>F<NFQTFANSMLCLFQITTSAGWDGLLSPILN | 1722 |
SCN1A | AIFGMSNFAYVKR-----EVG-----IDDM>F<NFETFGNSMICLFQITTSAGWDGLLAPILN | 1735 |
SCN2A | AIFGMSNFAYVKR-----EVG-----IDDM>F<NFETFGNSMICLFQITTSAGWDGLLAPILN | 1725 |
SCN3A | AIFGMSNFAYVKK-----EAG-----IDDM>F<NFETFGNSMICLFQITTSAGWDGLLAPILN | 1720 |
SCN4A | SIFGMSNFAYVKK-----ESG-----IDDM>F<NFETFGNSIICLFEITTSAGWDGLLNPILN | 1547 |
SCN7A | AVFGMYNFAYVKK-----EAG-----INDV>S<NFETFGNSMLCLFQVAIFAGWDGMLDAIFN | 1445 |
SCN8A | SIFGMSNFAYVKH-----EAG-----IDDM>F<NFETFGNSMICLFQITTSAGWDGLLLPILN | 1716 |
SCN9A | AIFGMSNFAYVKK-----EDG-----INDM>F<NFETFGNSMICLFQITTSAGWDGLLAPILN | 1698 |
SCN10A | SIFGMSSFPHVRW-----EAG-----IDDM>F<NFQTFANSMLCLFQITTSAGWDGLLSPILN | 1672 |
SCN11A | AILGMNWFSKVNP-----ESG-----IDDI>F<NFKTFASSMLCLFQISTSAGWDSLLSPMLR | 1562 |
CACNA1A | AIIGMQVFGNIGIDVEDEDSDEDEFQITEH>N<NFRTFFQALMLLFRSATGEAWHNIMLSCLS | 1767 |
CACNA1B | AIIGMQVFGNIALDD---DTS-----INRH>N<NFRTFLQALMLLFRSATGEAWHEIMLSCLS | 1667 |
CACNA1C | AVIGMQVFGKIALND---TTE-----INRN>N<NFQTFPQAVLLLFRCATGEAWQDIMLACMP | 1427 |
CACNA1D | AVIGMQMFGKVAMRD---NNQ-----INRN>N<NFQTFPQAVLLLFRCATGEAWQEIMLACLP | 1437 |
CACNA1E | AIIGMQVFGNIKLDE---ESH-----INRH>N<NFRSFFGSLMLLFRSATGEAWQEIMLSCLG | 1674 |
CACNA1F | AVIGMQMFGKVALQD---GTQ-----INRN>N<NFQTFPQAVLLLFRCATGEAWQEIMLASLP | 1394 |
CACNA1G | AALGVELFGDLECDET---HP--CEGLGRH>A<TFRNFGMAFLTLFRVSTGDNWNGIMKDTLR | 1813 |
CACNA1H | AALGVELFGRLECSED---NP--CEGLSRH>A<TFSNFGMAFLTLFRVSTGDNWNGIMKDTLR | 1819 |
CACNA1I | AALGVELFGKLVCNDE---NP--CEGMSRH>A<TFENFGMAFLTLFQVSTGDNWNGIMKDTLR | 1689 |
CACNA1S | AVIGMQMFGKIALVD---GTQ-----INRN>N<NFQTFPQAVLLLFRCATGEAWQEILLACSY | 1334 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Phe1692Ser | c.5075T>C | Unknown | SIFT: Polyphen: |