No paralogue variants have been mapped to residue 1709 for CACNA1C.
| CACNA1C | ---------ASED-DIFRRAGGLFGNHV-S>Y<YQSDG--------RSAFPQTFT---T---- | 1724 |
| CACNA1A | EQGPPTDMPNSQP-NSQSVEMREMGRDG-Y>S<DSEHYLPMEGQGRAASMPRLPA-------- | 2099 |
| CACNA1B | ERGHSTEIPVGRS-GALAVDVQMQSITRRG>P<DGEPQPGLESQGRAASMPRLAA-------- | 2008 |
| CACNA1D | ---------EEED-DVFKRNGALLGNHV-N>H<VNSDR--------RDSLQQTNT---T---- | 1727 |
| CACNA1E | DDGQFQERQSLEP-EVSELKSVQPSNHG-I>Y<LPSDTQEHAGSGRASSMPRLTV-------- | 2006 |
| CACNA1F | ---------EDEK-DLETNKATMVSQPS-A>R<---RG--------SGISVSLPVGDRL---- | 1687 |
| CACNA1G | CRHGSTAEGPLGH-RGWGLPKA-------->-<-----Q----SGSVLSVHSQP--------- | 2086 |
| CACNA1H | TQGGSLQSPPRSP-RPASVRT--------->-<----RK----HTFGQRCVSSRP---AAP-- | 2086 |
| CACNA1I | SPFSPDASSPLLP-MPAEFFHPAVSASQ-K>G<PEKGTG----TGTLPKIALQGS---WASLR | 1998 |
| CACNA1S | ---------AMEE-GIFRRTGGLFGQVD-N>F<L--ER--------TNSLPPVMA---N---- | 1624 |
| SCN10A | ---------NC-V---L-PDKS-------->-<------------------------------ | 1909 |
| SCN11A | ---------PH-----S-PLQT-------->-<------------------------------ | 1772 |
| SCN1A | ---------NS-I-----TEKT-------->-<------------------------------ | 1973 |
| SCN2A | ---------NS-T-----PEKT-------->-<------------------------------ | 1963 |
| SCN3A | ---------NS-T-----PEKT-------->-<------------------------------ | 1958 |
| SCN4A | ---------NSSS-----PSPE-------->-<------------------------------ | 1793 |
| SCN5A | ---------NF-SRPLG-PPSS-------->-<------------------------------ | 1965 |
| SCN7A | ------------------------------>-<------------------------------ | |
| SCN8A | ---------GT-H-----REKK-------->-<------------------------------ | 1935 |
| SCN9A | ---------NS-S-----PEKT-------->-<------------------------------ | 1935 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Y1709C | c.5126A>G | Putative Benign | rs201980843 | SIFT: tolerated Polyphen: possibly damaging |