No paralogue variants have been mapped to residue 1831 for CACNA1C.
CACNA1C | R--VQEVAWKLSSNRCHSRESQAAMAGQEE>T<------------SQDETYEVKMNHDTEACS | 1849 |
CACNA1A | RSASVL-------G---PKARRLDDYSLER>V<---------------PPEENQRHHQ--R-- | 2155 |
CACNA1B | RSISTL-------AQ-RPRGTHLCSTTPDR>P<---------------PPSQASSHHHHHRCH | 2058 |
CACNA1D | RSSVKRTRYYETYIRSDSGDEQLPTICRED>P<EIHGYFRDPHCLGEQEYFSSEECYEDDSSP | 1878 |
CACNA1E | RSFSTI-------RDKRSN-----SSWLEE>F<---------------SMERSSENTY--K-- | 2048 |
CACNA1F | --------ALIFTIPEEGNSQPKGTKGQNK>Q<------------DEDEEVPDRLSYLDEQAG | 1764 |
CACNA1G | DSLDVQ-------GL-GSREDLLAEVSGPS>P<------------PLARAYSFWGQSS--T-- | 2175 |
CACNA1H | ------------------------------>-<------------------------------ | |
CACNA1I | P----------------------------->-<------------------------------ | 2042 |
CACNA1S | ------------------------------>-<-------------------ANVAYGNSNHS | 1676 |
SCN10A | ------------------------------>-<------------------------------ | |
SCN11A | ------------------------------>-<------------------------------ | |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN5A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T1831M | c.5492C>T | Putative Benign | rs186015395 | SIFT: tolerated Polyphen: benign |