No paralogue variants have been mapped to residue 2017 for CACNA1C.
CACNA1C | FPSIHCGSWAETTPGGGGSSAARRVRPVSL>M<VPSQA---GAPGRQFHGSASSLVEA----- | 2039 |
CACNA1A | ------------------------------>-<------------------------------ | |
CACNA1B | PIHFA--------------------GAQTS>L<PAFSP---GRLSRGLSEHNA-----LLQRD | 2243 |
CACNA1D | LPSLHRSSWYTDEP----DISYRTFTPASL>T<VPSSF---RNKNSDKQRSADSLVEA----- | 2084 |
CACNA1E | AGSIS--------------------PPADG>S<EEGSP---LT-SQALESNNACLTESSNSPH | 2215 |
CACNA1F | S-----------------SGPLRTFT--CL>H<VPGTH---SDPSHGKRGSADSLVEA----- | 1901 |
CACNA1G | PTSWLDEQRRHSIAVSCLDSGSQPHLGTDP>S<NLGG---QPLGGPGSRPKKKLSPPS----- | 2310 |
CACNA1H | PGR-ADEQWRPSAELGSGEP-------GEA>K<AWGP---EAEPALGARRKKKMSPPC----- | 2191 |
CACNA1I | RG--LRAHQRSHSSGGSTSPGCTHHDSMDP>S<DEEGRGGAGGGGAGSEHSETLSSLS----- | 2131 |
CACNA1S | PGSLHE-----ETP---------------->H<SRSTR---ENTSRCSAPATALLIQK----- | 1790 |
SCN10A | E----------------------------->-<--------------------A--------- | 1946 |
SCN11A | ------------------------------>-<------------------------------ | |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN5A | L----------------------------->-<--------------------A--------- | 2002 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M2017T | c.6050T>C | Unknown | SIFT: Polyphen: benign | ||
p.Met2017Thr | c.6050T>C | Unknown | SIFT: Polyphen: |