No paralogue variants have been mapped to residue 2057 for CACNA1C.
CACNA1C | --------------------------PKFI>E<VTT-QELADACDMTIEEMESAADNILSGGA | 2086 |
CACNA1A | ------------------------------>-<------------------------------ | |
CACNA1B | --------------------------SDPY>L<GQR-LDSEASVHALPEDTLTFEEAVATNSG | 2290 |
CACNA1D | --------------------------PKFV>S<ATK-HEIADACDLTIDEMESAASTLLNGNV | 2131 |
CACNA1E | --------------------------SEPY>L<ALH-EDSHAS-DCGEEETLTFEAAVATSLG | 2261 |
CACNA1F | --------------------------PRFV>A<LAK-QEIADACRLTLDEMDNAASDLLAQGT | 1948 |
CACNA1G | --------------------------PPSP>G<ICLRRRAPSSDSKDPLASGPPDSMAASPSP | 2358 |
CACNA1H | HRDSLEPTEGSGAGGDPAAKGERWGQASCR>A<EHLTVPSFAFEPLDLGVPSGDPFLDGSHSV | 2288 |
CACNA1I | --------------------------PPAP>G<LTPARKFSSTSSLAAPGRPHAAALAHGLAR | 2176 |
CACNA1S | --------------------------ANFI>M<ATG-QALADACQMEPEEVEIMATELLKGRE | 1837 |
SCN10A | ------------------------------>-<------------------------------ | |
SCN11A | ------------------------------>-<------------------------------ | |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN5A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E2057K | c.6169G>A | Putative Benign | SIFT: Polyphen: |