No paralogue variants have been mapped to residue 1962 for CACNA1C.
CACNA1C | --------QRSHSPASFPRPFATPPATPGS>R<GWPPQPVPTLRLEGVESSEKLNSSFPSIHC | 1992 |
CACNA1A | --HHHHHHHHPPPPDKDRYAQ-ERPDHG-->-<---RARARDQRWS----------------- | 2247 |
CACNA1B | SVNGSPLLSTSGASTPGRGGRRQLPQTP-->-<---LTPRPSITYKTANS----S--PIHFA- | 2215 |
CACNA1D | --------AQKYSPSHSTRSWATPPATPPY>R<DWTPCYTPLIQVEQSEALDQVNGSLPSLHR | 2041 |
CACNA1E | SLSESSIPSVSDTSTP-RRSRRQLPPVP-->-<---PKPRPLLSYSSLIR----H--AGSIS- | 2183 |
CACNA1F | --------GRNSGPNRAQGSWATPPQRG-->-<--RLLYAPLLLVEEGAAGEGYLGRS----- | 1868 |
CACNA1G | -------------------SWISGDLLPPG>G<QEEPPSPRDLKKCYSVEAQSCQRRPTSWLD | 2263 |
CACNA1H | ------------------------------>-<-------RDLRRLYSVDAQGFLDKPGR-AD | 2151 |
CACNA1I | ------------------------------>-<-------PAARRRLSLRGRGLFSLRG--LR | 2081 |
CACNA1S | --------QAPPAPCQCP------------>-<----------RVESSMPEDRKSSTPGSLHE | 1764 |
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.R1962Q | c.5885G>A | Putative Benign | rs199776761 | SIFT: tolerated Polyphen: benign |