No paralogue variants have been mapped to residue 1704 for CACNA1C.
CACNA1C | ---------------ASED-DIFRRAGGLF>G<NHV-SYYQSDG--------RSAFPQTFT-- | 1723 |
CACNA1A | TGTWSPEQGPPTDMPNSQP-NSQSVEMREM>G<RDG-YSDSEHYLPMEGQGRAASMPRLPA-- | 2099 |
CACNA1B | A-RPPLERGHSTEIPVGRS-GALAVDVQMQ>S<ITRRGPDGEPQPGLESQGRAASMPRLAA-- | 2008 |
CACNA1D | ---------------EEED-DVFKRNGALL>G<NHV-NHVNSDR--------RDSLQQTNT-- | 1726 |
CACNA1E | ACMDPADDGQFQERQSLEP-EVSELKSVQP>S<NHG-IYLPSDTQEHAGSGRASSMPRLTV-- | 2006 |
CACNA1F | ---------------EDEK-DLETNKATMV>S<QPS-AR---RG--------SGISVSLPVGD | 1685 |
CACNA1G | PNDSYMCRHGSTAEGPLGH-RGWGLPKA-->-<-----------Q----SGSVLSVHSQP--- | 2086 |
CACNA1H | TPVRPVTQGGSLQSPPRSP-RPASVRT--->-<----------RK----HTFGQRCVSSRP-- | 2083 |
CACNA1I | SSQAPPSPFSPDASSPLLP-MPAEFFHPAV>S<ASQ-KGPEKGTG----TGTLPKIALQGS-- | 1993 |
CACNA1S | ---------------AMEE-GIFRRTGGLF>G<QVD-NFL--ER--------TNSLPPVMA-- | 1623 |
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.G1704S | c.5110G>A | Putative Benign | SIFT: Polyphen: |