No paralogue variants have been mapped to residue 2001 for CACNA1C.
CACNA1C | TLRLEGVESSEKLNSSFPSIHCGSWAETTP>G<GGGSSAARRVRPVSLMVPSQA---GAPGRQ | 2028 |
CACNA1A | DQRWS------------------------->-<------------------------------ | 2247 |
CACNA1B | SITYKTANS----S--PIHFA--------->-<----------GAQTSLPAFSP---GRLSRG | 2232 |
CACNA1D | LIQVEQSEALDQVNGSLPSLHRSSWYTDEP>-<---DISYRTFTPASLTVPSSF---RNKNSD | 2073 |
CACNA1E | LLSYSSLIR----H--AGSIS--------->-<----------PPADGSEEGSP---LT-SQA | 2199 |
CACNA1F | LLLVEEGAAGEGYLGRS------------->-<---SGPLRTFT--CLHVPGTH---SDPSHG | 1890 |
CACNA1G | DLKKCYSVEAQSCQRRPTSWLDEQRRHSIA>V<SCLDSGSQPHLGTDPSNLGG---QPLGGPG | 2299 |
CACNA1H | DLRRLYSVDAQGFLDKPGR-ADEQWRPSAE>L<GSGEP-------GEAKAWGP---EAEPALG | 2180 |
CACNA1I | AARRRLSLRGRGLFSLRG--LRAHQRSHSS>G<GSTSPGCTHHDSMDPSDEEGRGGAGGGGAG | 2120 |
CACNA1S | --RVESSMPEDRKSSTPGSLHE-----ETP>-<---------------HSRSTR---ENTSRC | 1779 |
SCN10A | S--SIQNED-------E------------->-<------------------------------ | 1945 |
SCN11A | G--KVHC----------------------->-<------------------------------ | 1790 |
SCN1A | E--GKDEKA--------------------->-<------------------------------ | 2006 |
SCN2A | D--KSEKED--------------------->-<------------------------------ | 1995 |
SCN3A | D--KPEKES--------------------->-<------------------------------ | 1990 |
SCN4A | A--PPPGQT--------------------->-<------------------------------ | 1826 |
SCN5A | D--YSHSED-------L------------->-<------------------------------ | 2001 |
SCN7A | S--P-------------------------->-<------------------------------ | 1677 |
SCN8A | G--RRERAK--------------------->-<------------------------------ | 1970 |
SCN9A | D--RTEKED--------------------->-<------------------------------ | 1967 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G2001S | c.6001G>A | Putative Benign | SIFT: tolerated Polyphen: benign | ||
p.G2001D | c.6002G>A | Putative Benign | SIFT: Polyphen: |