No paralogue variants have been mapped to residue 1717 for CACNA1C.
CACNA1C | FRRAGGLFGNHV-SYYQSDG--------RS>A<FPQTFT---T-------QRPLHINKAGSS- | 1736 |
CACNA1A | QSVEMREMGRDG-YSDSEHYLPMEGQGRAA>S<MPRLPA------------------------ | 2099 |
CACNA1B | LAVDVQMQSITRRGPDGEPQPGLESQGRAA>S<MPRLAA------------------------ | 2008 |
CACNA1D | FKRNGALLGNHV-NHVNSDR--------RD>S<LQQTNT---T-------HRPLHVQRPSIPP | 1740 |
CACNA1E | SELKSVQPSNHG-IYLPSDTQEHAGSGRAS>S<MPRLTV------------------------ | 2006 |
CACNA1F | ETNKATMVSQPS-AR---RG--------SG>I<SVSLPVGDRL-------PDSLSFG---P-- | 1695 |
CACNA1G | WGLPKA--------------Q----SGSVL>S<VHSQP-----------ADT----------- | 2089 |
CACNA1H | ASVRT--------------RK----HTFGQ>R<CVSSRP---AAP----GGE----------- | 2089 |
CACNA1I | AEFFHPAVSASQ-KGPEKGTG----TGTLP>K<IALQGS---WASLRSPRVN----------- | 2003 |
CACNA1S | FRRTGGLFGQVD-NFL--ER--------TN>S<LPPVMA---N-------QRPLQFAEIE--- | 1634 |
SCN10A | L-PDKS------------------------>-<------------------------------ | 1909 |
SCN11A | S-PLQT------------------------>-<------------------------------ | 1772 |
SCN1A | --TEKT------------------------>-<------------------------------ | 1973 |
SCN2A | --PEKT------------------------>-<------------------------------ | 1963 |
SCN3A | --PEKT------------------------>-<------------------------------ | 1958 |
SCN4A | --PSPE------------------------>-<------------------------------ | 1793 |
SCN5A | G-PPSS------------------------>-<------------------------------ | 1965 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | --REKK------------------------>-<------------------------------ | 1935 |
SCN9A | --PEKT------------------------>-<------------------------------ | 1935 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1717T | c.5149G>A | Putative Benign | rs200865354 | SIFT: tolerated Polyphen: benign | |
p.A1717V | c.5150C>T | Putative Benign | rs201492706 | SIFT: tolerated Polyphen: benign | |
p.A1717G | c.5150C>G | Benign | rs201492706 | SIFT: deleterious Polyphen: benign |