No paralogue variants have been mapped to residue 1762 for CACNA1C.
CACNA1C | DTESPSHEKLVDSTFTPSSY-------SST>G<SNANI--NNANNTALGRLPRPAG----YPS | 1786 |
CACNA1A | ------------------------------>-<------------ENQRRRGRPR-------- | 2109 |
CACNA1B | ------------------------------>-<------------ETQ-----P--------- | 2012 |
CACNA1D | DTEKPLFPPAGNSVCHNHHNHNSIGKQVPT>S<TNANL--NNANMSKAAHGKRPSIGNLEHVS | 1801 |
CACNA1E | ------------------------------>-<------------DPQ--------------- | 2009 |
CACNA1F | ------SDDDRG---------------TPT>S<SQPSV--PQAGSNTHRRGSG---------- | 1723 |
CACNA1G | ILQLPKDAPHLLQPHS-APT--------WG>T<IPKLPPPG---RSPL--------------- | 2125 |
CACNA1H | EASDPADEEVSHITSS-ACP--------WQ>P<TAEPH------------------------- | 2118 |
CACNA1I | LLRQATGSDTSLDASP-SSS--------AG>S<L-QTTLED---SLT---------------- | 2037 |
CACNA1S | EMESPVFLE---D-FPQDPR-------TNP>L<ARANT--NNAN------------------- | 1665 |
SCN10A | --------ETASATSF-P----------PS>Y<ESVT-------------------------- | 1925 |
SCN11A | --------L--------------------C>N<GDLS-------------------------- | 1779 |
SCN1A | --------DLTMSTAACP----------PS>Y<DRVT-------------------------- | 1990 |
SCN2A | --------DMTPSTTS-P----------PS>Y<DSVT-------------------------- | 1979 |
SCN3A | --------DGSSSTTS-P----------PS>Y<DSVT-------------------------- | 1974 |
SCN4A | --------EKGEAGDA-G----------PT>M<GLMP-------------------------- | 1809 |
SCN5A | --------SSISSTSF-P----------PS>Y<DSVT-------------------------- | 1981 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | --------ESTPSTAS-L----------PS>Y<DSVT-------------------------- | 1951 |
SCN9A | --------DATSSTTS-P----------PS>Y<DSVT-------------------------- | 1951 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G1762S | c.5284G>A | Putative Benign | rs374863121 | SIFT: tolerated Polyphen: benign | |
p.G1762R | c.5284G>C | Putative Benign | SIFT: Polyphen: |