No paralogue variants have been mapped to residue 1707 for CACNA1C.
CACNA1C | ------------ASED-DIFRRAGGLFGNH>V<-SYYQSDG--------RSAFPQTFT---T- | 1724 |
CACNA1A | WSPEQGPPTDMPNSQP-NSQSVEMREMGRD>G<-YSDSEHYLPMEGQGRAASMPRLPA----- | 2099 |
CACNA1B | PPLERGHSTEIPVGRS-GALAVDVQMQSIT>R<RGPDGEPQPGLESQGRAASMPRLAA----- | 2008 |
CACNA1D | ------------EEED-DVFKRNGALLGNH>V<-NHVNSDR--------RDSLQQTNT---T- | 1727 |
CACNA1E | DPADDGQFQERQSLEP-EVSELKSVQPSNH>G<-IYLPSDTQEHAGSGRASSMPRLTV----- | 2006 |
CACNA1F | ------------EDEK-DLETNKATMVSQP>S<-AR---RG--------SGISVSLPVGDRL- | 1687 |
CACNA1G | SYMCRHGSTAEGPLGH-RGWGLPKA----->-<--------Q----SGSVLSVHSQP------ | 2086 |
CACNA1H | RPVTQGGSLQSPPRSP-RPASVRT------>-<-------RK----HTFGQRCVSSRP---AA | 2085 |
CACNA1I | APPSPFSPDASSPLLP-MPAEFFHPAVSAS>Q<-KGPEKGTG----TGTLPKIALQGS---WA | 1995 |
CACNA1S | ------------AMEE-GIFRRTGGLFGQV>D<-NFL--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.V1707I | c.5119G>A | Putative Benign | rs147896322 | SIFT: tolerated Polyphen: benign | |
p.V1707A | c.5120T>C | Putative Benign | SIFT: tolerated Polyphen: probably damaging |