No paralogue variants have been mapped to residue 1996 for CACNA1C.
CACNA1C | PQPVPTLRLEGVESSEKLNSSFPSIHCGSW>A<ETTPGGGGSSAARRVRPVSLMVPSQA---G | 2023 |
CACNA1A | RARARDQRWS-------------------->-<------------------------------ | 2247 |
CACNA1B | LTPRPSITYKTANS----S--PIHFA---->-<---------------GAQTSLPAFSP---G | 2227 |
CACNA1D | PCYTPLIQVEQSEALDQVNGSLPSLHRSSW>Y<TDEP----DISYRTFTPASLTVPSSF---R | 2068 |
CACNA1E | PKPRPLLSYSSLIR----H--AGSIS---->-<---------------PPADGSEEGSP---L | 2195 |
CACNA1F | LLYAPLLLVEEGAAGEGYLGRS-------->-<--------SGPLRTFT--CLHVPGTH---S | 1885 |
CACNA1G | PPSPRDLKKCYSVEAQSCQRRPTSWLDEQR>R<HSIAVSCLDSGSQPHLGTDPSNLGG---QP | 2294 |
CACNA1H | ----RDLRRLYSVDAQGFLDKPGR-ADEQW>R<PSAELGSGEP-------GEAKAWGP---EA | 2175 |
CACNA1I | ----PAARRRLSLRGRGLFSLRG--LRAHQ>R<SHSSGGSTSPGCTHHDSMDPSDEEGRGGAG | 2115 |
CACNA1S | -------RVESSMPEDRKSSTPGSLHE--->-<-ETP----------------HSRSTR---E | 1774 |
SCN10A | -S---S--SIQNED-------E-------->-<------------------------------ | 1945 |
SCN11A | -----G--KVHC------------------>-<------------------------------ | 1790 |
SCN1A | -Q---E--GKDEKA---------------->-<------------------------------ | 2006 |
SCN2A | -K---D--KSEKED---------------->-<------------------------------ | 1995 |
SCN3A | -K---D--KPEKES---------------->-<------------------------------ | 1990 |
SCN4A | -P---A--PPPGQT---------------->-<------------------------------ | 1826 |
SCN5A | -S---D--YSHSED-------L-------->-<------------------------------ | 2001 |
SCN7A | -----S--P--------------------->-<------------------------------ | 1677 |
SCN8A | -E---G--RRERAK---------------->-<------------------------------ | 1970 |
SCN9A | -Q---D--RTEKED---------------->-<------------------------------ | 1967 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1996S | c.5986G>T | Putative Benign | SIFT: tolerated Polyphen: benign | ||
p.A1996V | c.5987C>T | Putative Benign | SIFT: Polyphen: |