No paralogue variants have been mapped to residue 1972 for CACNA1C.
| CACNA1C | SHSPASFPRPFATPPATPGSRGWPPQPVPT>L<RLEGVESSEKLNSSFPSIHCGSWAETTPGG | 2002 |
| CACNA1A | PPPPDKDRYAQ-ERPDHG------RARARD>Q<RWS--------------------------- | 2247 |
| CACNA1B | SGASTPGRGGRRQLPQTP------LTPRPS>I<TYKTANS----S--PIHFA----------- | 2215 |
| CACNA1D | KYSPSHSTRSWATPPATPPYRDWTPCYTPL>I<QVEQSEALDQVNGSLPSLHRSSWYTDEP-- | 2049 |
| CACNA1E | SDTSTP-RRSRRQLPPVP------PKPRPL>L<SYSSLIR----H--AGSIS----------- | 2183 |
| CACNA1F | NSGPNRAQGSWATPPQRG-----RLLYAPL>L<LVEEGAAGEGYLGRS--------------- | 1868 |
| CACNA1G | ---------SWISGDLLPPGGQEEPPSPRD>L<KKCYSVEAQSCQRRPTSWLDEQRRHSIAVS | 2273 |
| CACNA1H | ----------------------------RD>L<RRLYSVDAQGFLDKPGR-ADEQWRPSAELG | 2161 |
| CACNA1I | ----------------------------PA>A<RRRLSLRGRGLFSLRG--LRAHQRSHSSGG | 2091 |
| CACNA1S | PPAPCQCP---------------------->-<RVESSMPEDRKSSTPGSLHE-----ETP-- | 1767 |
| 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.L1972M | c.5914C>A | Putative Benign | SIFT: Polyphen: |