No paralogue variants have been mapped to residue 1715 for CACNA1C.
| CACNA1C | DIFRRAGGLFGNHV-SYYQSDG-------->R<SAFPQTFT---T-------QRPLHINKAGS | 1735 |
| CACNA1A | NSQSVEMREMGRDG-YSDSEHYLPMEGQGR>A<ASMPRLPA---------------------- | 2099 |
| CACNA1B | GALAVDVQMQSITRRGPDGEPQPGLESQGR>A<ASMPRLAA---------------------- | 2008 |
| CACNA1D | DVFKRNGALLGNHV-NHVNSDR-------->R<DSLQQTNT---T-------HRPLHVQRPSI | 1738 |
| CACNA1E | EVSELKSVQPSNHG-IYLPSDTQEHAGSGR>A<SSMPRLTV---------------------- | 2006 |
| CACNA1F | DLETNKATMVSQPS-AR---RG-------->S<GISVSLPVGDRL-------PDSLSFG---P | 1695 |
| CACNA1G | RGWGLPKA--------------Q----SGS>V<LSVHSQP-----------ADT--------- | 2089 |
| CACNA1H | RPASVRT--------------RK----HTF>G<QRCVSSRP---AAP----GGE--------- | 2089 |
| CACNA1I | MPAEFFHPAVSASQ-KGPEKGTG----TGT>L<PKIALQGS---WASLRSPRVN--------- | 2003 |
| CACNA1S | GIFRRTGGLFGQVD-NFL--ER-------->T<NSLPPVMA---N-------QRPLQFAEIE- | 1634 |
| SCN10A | --L-PDKS---------------------->-<------------------------------ | 1909 |
| SCN11A | --S-PLQT---------------------->-<------------------------------ | 1772 |
| SCN1A | ----TEKT---------------------->-<------------------------------ | 1973 |
| SCN2A | ----PEKT---------------------->-<------------------------------ | 1963 |
| SCN3A | ----PEKT---------------------->-<------------------------------ | 1958 |
| SCN4A | ----PSPE---------------------->-<------------------------------ | 1793 |
| SCN5A | PLG-PPSS---------------------->-<------------------------------ | 1965 |
| SCN7A | ------------------------------>-<------------------------------ | |
| SCN8A | ----REKK---------------------->-<------------------------------ | 1935 |
| SCN9A | ----PEKT---------------------->-<------------------------------ | 1935 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R1715Q | c.5144G>A | Putative Benign | rs376706496 | SIFT: tolerated Polyphen: benign | |
| p.Arg1715Trp | c.5143C>T | Unknown | SIFT: Polyphen: |