No paralogue variants have been mapped to residue 2103 for CACNA1C.
CACNA1C | EMESAADNILSGGAPQSPNGALLPFVNCRD>A<G---QDRAGGEEDA----------GCV--- | 2117 |
CACNA1A | ------------------------------>-<------------------------------ | |
CACNA1B | DTLTFEEAVATNSGRSSRTSYVSSLTSQSH>P<L---RRVPNGYHCTLG-LS----------- | 2322 |
CACNA1D | EMESAASTLLNGNVRPRANGDVGPLSHRQD>Y<E---LQDFGPGYSD----------E-E--- | 2161 |
CACNA1E | ETLTFEAAVATSLGRSNTIGSAPPLRHSW->-<-----QMPNGHYRRRR-RG-----GPG--- | 2292 |
CACNA1F | EMDNAASDLLAQGTSS-------------->-<----------LYSD----------E-E--- | 1956 |
CACNA1G | ASGPPDSMAASPSPKKDVLSLSGLSSDPAD>L<D----------------------------- | 2376 |
CACNA1H | VPSGDPFLDGSHSVTPESRASSSGAIVPLE>P<PESEPPMPVGDPPEKRRGLYLTVPQ-CPLE | 2334 |
CACNA1I | GRPHAAALAHGLARSPSWAADRSKDPPGRA>P<LPMGLGPLAPP------------------- | 2204 |
CACNA1S | EVEIMATELLKGREAPEGMASSLGCLNL-->-<--------------------------G--- | 1852 |
SCN10A | ------------------------------>-<------------------------------ | |
SCN11A | ------------------------------>-<------------------------------ | |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN5A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A2103S | c.6307G>T | Putative Benign | rs193922616 | SIFT: tolerated Polyphen: benign | |
p.A2103T | c.6307G>A | Putative Benign | SIFT: Polyphen: |