No paralogue variants have been mapped to residue 2004 for CACNA1C.
| CACNA1C | LEGVESSEKLNSSFPSIHCGSWAETTPGGG>G<SSAARRVRPVSLMVPSQA---GAPGRQFHG | 2031 |
| CACNA1A | WS---------------------------->-<------------------------------ | 2247 |
| CACNA1B | YKTANS----S--PIHFA------------>-<-------GAQTSLPAFSP---GRLSRGLSE | 2235 |
| CACNA1D | VEQSEALDQVNGSLPSLHRSSWYTDEP--->-<DISYRTFTPASLTVPSSF---RNKNSDKQR | 2076 |
| CACNA1E | YSSLIR----H--AGSIS------------>-<-------PPADGSEEGSP---LT-SQALES | 2202 |
| CACNA1F | VEEGAAGEGYLGRS---------------->-<SGPLRTFT--CLHVPGTH---SDPSHGKRG | 1893 |
| CACNA1G | KCYSVEAQSCQRRPTSWLDEQRRHSIAVSC>L<DSGSQPHLGTDPSNLGG---QPLGGPGSRP | 2302 |
| CACNA1H | RLYSVDAQGFLDKPGR-ADEQWRPSAELGS>G<EP-------GEAKAWGP---EAEPALGARR | 2183 |
| CACNA1I | RRLSLRGRGLFSLRG--LRAHQRSHSSGGS>T<SPGCTHHDSMDPSDEEGRGGAGGGGAGSEH | 2123 |
| CACNA1S | VESSMPEDRKSSTPGSLHE-----ETP--->-<------------HSRSTR---ENTSRCSAP | 1782 |
| SCN10A | SIQNED-------E---------------->-<------------------------------ | 1945 |
| SCN11A | KVHC-------------------------->-<------------------------------ | 1790 |
| SCN1A | GKDEKA------------------------>-<------------------------------ | 2006 |
| SCN2A | KSEKED------------------------>-<------------------------------ | 1995 |
| SCN3A | KPEKES------------------------>-<------------------------------ | 1990 |
| SCN4A | PPPGQT------------------------>-<------------------------------ | 1826 |
| SCN5A | YSHSED-------L---------------->-<------------------------------ | 2001 |
| SCN7A | P----------------------------->-<------------------------------ | 1677 |
| SCN8A | RRERAK------------------------>-<------------------------------ | 1970 |
| SCN9A | RTEKED------------------------>-<------------------------------ | 1967 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G2004V | c.6011G>T | Putative Benign | rs374991642 | SIFT: tolerated Polyphen: benign |