No paralogue variants have been mapped to residue 1714 for CACNA1C.
| CACNA1C | ----ASED-DIFRRAGGLFGNHV-SYYQSD>G<--------RSAFPQTFT---T-------QR | 1726 |
| CACNA1A | TDMPNSQP-NSQSVEMREMGRDG-YSDSEH>Y<LPMEGQGRAASMPRLPA------------- | 2099 |
| CACNA1B | TEIPVGRS-GALAVDVQMQSITRRGPDGEP>Q<PGLESQGRAASMPRLAA------------- | 2008 |
| CACNA1D | ----EEED-DVFKRNGALLGNHV-NHVNSD>R<--------RDSLQQTNT---T-------HR | 1729 |
| CACNA1E | QERQSLEP-EVSELKSVQPSNHG-IYLPSD>T<QEHAGSGRASSMPRLTV------------- | 2006 |
| CACNA1F | ----EDEK-DLETNKATMVSQPS-AR---R>G<--------SGISVSLPVGDRL-------PD | 1689 |
| CACNA1G | TAEGPLGH-RGWGLPKA------------->-<Q----SGSVLSVHSQP-----------ADT | 2089 |
| CACNA1H | LQSPPRSP-RPASVRT-------------->R<K----HTFGQRCVSSRP---AAP----GGE | 2089 |
| CACNA1I | DASSPLLP-MPAEFFHPAVSASQ-KGPEKG>T<G----TGTLPKIALQGS---WASLRSPRVN | 2003 |
| CACNA1S | ----AMEE-GIFRRTGGLFGQVD-NFL--E>R<--------TNSLPPVMA---N-------QR | 1626 |
| 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.G1714S | c.5140G>A | Putative Benign | SIFT: tolerated Polyphen: benign |