No paralogue variants have been mapped to residue 1788 for CACNA1C.
CACNA1C | NANI--NNANNTALGRLPRPAG----YPST>V<STVEGHGPPLSPAIR--VQEVAWKLSSNRC | 1816 |
CACNA1A | -----------ENQRRRGRPR--------->-<GNNLSTISDTSPMKRSASVL-------G-- | 2130 |
CACNA1B | -----------ETQ-----P---------->-<------VTDASPMKRSISTL-------AQ- | 2028 |
CACNA1D | NANL--NNANMSKAAHGKRPSIGNLEHVSE>N<GHHSSHKHDREPQRRSSVKRTRYYETYIRS | 1833 |
CACNA1E | -----------DPQ---------------->-<-----VVTDPSSMRRSFSTI-------RDK | 2027 |
CACNA1F | QPSV--PQAGSNTHRRGSG----------->-<----------------------ALIFTIPE | 1731 |
CACNA1G | PKLPPPG---RSPL---------------->-<-AQRPLRRQAAIRTDSLDVQ-------GL- | 2146 |
CACNA1H | AEPH-------------------------->-<------------------------------ | 2118 |
CACNA1I | -QTTLED---SLT----------------->-<----------LSDSP--------------- | 2042 |
CACNA1S | RANT--NNAN-------------------->-<------------------------------ | 1665 |
SCN10A | SVT--------------------------->-<------------------------------ | 1925 |
SCN11A | DLS--------------------------->-<------------------------------ | 1779 |
SCN1A | RVT--------------------------->-<------------------------------ | 1990 |
SCN2A | SVT--------------------------->-<------------------------------ | 1979 |
SCN3A | SVT--------------------------->-<------------------------------ | 1974 |
SCN4A | LMP--------------------------->-<------------------------------ | 1809 |
SCN5A | SVT--------------------------->-<------------------------------ | 1981 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | SVT--------------------------->-<------------------------------ | 1951 |
SCN9A | SVT--------------------------->-<------------------------------ | 1951 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1788A | c.5363T>C | Putative Benign | SIFT: tolerated Polyphen: benign |