No paralogue variants have been mapped to residue 1713 for CACNA1C.
CACNA1C | -----ASED-DIFRRAGGLFGNHV-SYYQS>D<G--------RSAFPQTFT---T-------Q | 1725 |
CACNA1A | PTDMPNSQP-NSQSVEMREMGRDG-YSDSE>H<YLPMEGQGRAASMPRLPA------------ | 2099 |
CACNA1B | STEIPVGRS-GALAVDVQMQSITRRGPDGE>P<QPGLESQGRAASMPRLAA------------ | 2008 |
CACNA1D | -----EEED-DVFKRNGALLGNHV-NHVNS>D<R--------RDSLQQTNT---T-------H | 1728 |
CACNA1E | FQERQSLEP-EVSELKSVQPSNHG-IYLPS>D<TQEHAGSGRASSMPRLTV------------ | 2006 |
CACNA1F | -----EDEK-DLETNKATMVSQPS-AR--->R<G--------SGISVSLPVGDRL-------P | 1688 |
CACNA1G | STAEGPLGH-RGWGLPKA------------>-<-Q----SGSVLSVHSQP-----------AD | 2088 |
CACNA1H | SLQSPPRSP-RPASVRT------------->-<RK----HTFGQRCVSSRP---AAP----GG | 2088 |
CACNA1I | PDASSPLLP-MPAEFFHPAVSASQ-KGPEK>G<TG----TGTLPKIALQGS---WASLRSPRV | 2002 |
CACNA1S | -----AMEE-GIFRRTGGLFGQVD-NFL-->E<R--------TNSLPPVMA---N-------Q | 1625 |
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.D1713N | c.5137G>A | Putative Benign | SIFT: Polyphen: | ||
p.D1713G | c.5138A>G | Putative Benign | SIFT: Polyphen: |