No paralogue variants have been mapped to residue 1802 for CACNA1C.
CACNA1C | GRLPRPAG----YPSTVSTVEGHGPPLSPA>I<R--VQEVAWKLSSNRCHSRESQAAMAGQEE | 1830 |
CACNA1A | RRRGRPR----------GNNLSTISDTSPM>K<RSASVL-------G---PKARRLDDYSLER | 2143 |
CACNA1B | -----P-----------------VTDASPM>K<RSISTL-------AQ-RPRGTHLCSTTPDR | 2042 |
CACNA1D | AHGKRPSIGNLEHVSENGHHSSHKHDREPQ>R<RSSVKRTRYYETYIRSDSGDEQLPTICRED | 1847 |
CACNA1E | ----------------------VVTDPSSM>R<RSFSTI-------RDKRSN-----SSWLEE | 2036 |
CACNA1F | RRGSG------------------------->-<--------ALIFTIPEEGNSQPKGTKGQNK | 1745 |
CACNA1G | ------------------AQRPLRRQAAIR>T<DSLDVQ-------GL-GSREDLLAEVSGPS | 2160 |
CACNA1H | ------------------------------>-<------------------------------ | |
CACNA1I | ---------------------------LSD>S<P----------------------------- | 2042 |
CACNA1S | ------------------------------>-<------------------------------ | |
SCN10A | ------------------------------>-<------------------------------ | |
SCN11A | ------------------------------>-<------------------------------ | |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN5A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I1802V | c.5404A>G | Putative Benign | rs370471203 | SIFT: tolerated Polyphen: benign |