No paralogue variants have been mapped to residue 1973 for CACNA1C.
| CACNA1C | HSPASFPRPFATPPATPGSRGWPPQPVPTL>R<LEGVESSEKLNSSFPSIHCGSWAETTPGGG | 2003 |
| CACNA1A | PPPDKDRYAQ-ERPDHG------RARARDQ>R<WS---------------------------- | 2247 |
| CACNA1B | GASTPGRGGRRQLPQTP------LTPRPSI>T<YKTANS----S--PIHFA------------ | 2215 |
| CACNA1D | YSPSHSTRSWATPPATPPYRDWTPCYTPLI>Q<VEQSEALDQVNGSLPSLHRSSWYTDEP--- | 2049 |
| CACNA1E | DTSTP-RRSRRQLPPVP------PKPRPLL>S<YSSLIR----H--AGSIS------------ | 2183 |
| CACNA1F | SGPNRAQGSWATPPQRG-----RLLYAPLL>L<VEEGAAGEGYLGRS---------------- | 1868 |
| CACNA1G | --------SWISGDLLPPGGQEEPPSPRDL>K<KCYSVEAQSCQRRPTSWLDEQRRHSIAVSC | 2274 |
| CACNA1H | ---------------------------RDL>R<RLYSVDAQGFLDKPGR-ADEQWRPSAELGS | 2162 |
| CACNA1I | ---------------------------PAA>R<RRLSLRGRGLFSLRG--LRAHQRSHSSGGS | 2092 |
| CACNA1S | PAPCQCP----------------------->R<VESSMPEDRKSSTPGSLHE-----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.R1973Q | c.5918G>A | Conflict | rs112414325 | SIFT: tolerated Polyphen: | |
| Reports | Other Cardiac Phenotype | Post-mortem genetic analysis in juvenile cases of sudden cardiac death. Forensic Sci Int. 2014 245C:30-37. doi: 10.1016/j.forsciint.2014.10.004. 25447171 | |||
| p.R1973W | c.5917C>T | Putative Benign | SIFT: Polyphen: | ||