No paralogue variants have been mapped to residue 1992 for CACNA1C.
CACNA1C | RGWPPQPVPTLRLEGVESSEKLNSSFPSIH>C<GSWAETTPGGGGSSAARRVRPVSLMVPSQA | 2022 |
CACNA1A | ----RARARDQRWS---------------->-<------------------------------ | 2247 |
CACNA1B | ----LTPRPSITYKTANS----S--PIHFA>-<-------------------GAQTSLPAFSP | 2226 |
CACNA1D | RDWTPCYTPLIQVEQSEALDQVNGSLPSLH>R<SSWYTDEP----DISYRTFTPASLTVPSSF | 2067 |
CACNA1E | ----PKPRPLLSYSSLIR----H--AGSIS>-<-------------------PPADGSEEGSP | 2194 |
CACNA1F | ---RLLYAPLLLVEEGAAGEGYLGRS---->-<------------SGPLRTFT--CLHVPGTH | 1884 |
CACNA1G | GQEEPPSPRDLKKCYSVEAQSCQRRPTSWL>D<EQRRHSIAVSCLDSGSQPHLGTDPSNLGG- | 2292 |
CACNA1H | --------RDLRRLYSVDAQGFLDKPGR-A>D<EQWRPSAELGSGEP-------GEAKAWGP- | 2173 |
CACNA1I | --------PAARRRLSLRGRGLFSLRG--L>R<AHQRSHSSGGSTSPGCTHHDSMDPSDEEGR | 2111 |
CACNA1S | -----------RVESSMPEDRKSSTPGSLH>E<-----ETP----------------HSRSTR | 1773 |
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.C1992F | c.5975G>T | Putative Benign | rs375818733 | SIFT: deleterious Polyphen: benign |