No paralogue variants have been mapped to residue 2012 for CACNA1C.
| CACNA1C | KLNSSFPSIHCGSWAETTPGGGGSSAARRV>R<PVSLMVPSQA---GAPGRQFHGSASSLVEA | 2039 |
| CACNA1A | ------------------------------>-<------------------------------ | |
| CACNA1B | --S--PIHFA-------------------->G<AQTSLPAFSP---GRLSRGLSEHNA----- | 2238 |
| CACNA1D | QVNGSLPSLHRSSWYTDEP----DISYRTF>T<PASLTVPSSF---RNKNSDKQRSADSLVEA | 2084 |
| CACNA1E | --H--AGSIS-------------------->P<PADGSEEGSP---LT-SQALESNNACLTES | 2210 |
| CACNA1F | GYLGRS-----------------SGPLRTF>T<--CLHVPGTH---SDPSHGKRGSADSLVEA | 1901 |
| CACNA1G | SCQRRPTSWLDEQRRHSIAVSCLDSGSQPH>L<GTDPSNLGG---QPLGGPGSRPKKKLSPPS | 2310 |
| CACNA1H | GFLDKPGR-ADEQWRPSAELGSGEP----->-<-GEAKAWGP---EAEPALGARRKKKMSPPC | 2191 |
| CACNA1I | GLFSLRG--LRAHQRSHSSGGSTSPGCTHH>D<SMDPSDEEGRGGAGGGGAGSEHSETLSSLS | 2131 |
| CACNA1S | RKSSTPGSLHE-----ETP----------->-<----HSRSTR---ENTSRCSAPATALLIQK | 1790 |
| SCN10A | -----E------------------------>-<-------------------------A---- | 1946 |
| SCN11A | ------------------------------>-<------------------------------ | |
| SCN1A | ------------------------------>-<------------------------------ | |
| SCN2A | ------------------------------>-<------------------------------ | |
| SCN3A | ------------------------------>-<------------------------------ | |
| SCN4A | ------------------------------>-<------------------------------ | |
| SCN5A | -----L------------------------>-<-------------------------A---- | 2002 |
| SCN7A | ------------------------------>-<------------------------------ | |
| SCN8A | ------------------------------>-<------------------------------ | |
| SCN9A | ------------------------------>-<------------------------------ | |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R2012W | c.6034C>T | Putative Benign | SIFT: deleterious Polyphen: probably damaging | ||
| p.R2012Q | c.6035G>A | Putative Benign | SIFT: Polyphen: |