No paralogue variants have been mapped to residue 1978 for CACNA1C.
| CACNA1C | FPRPFATPPATPGSRGWPPQPVPTLRLEGV>E<SSEKLNSSFPSIHCGSWAETTPGGGGSSAA | 2008 |
| CACNA1A | DRYAQ-ERPDHG------RARARDQRWS-->-<------------------------------ | 2247 |
| CACNA1B | GRGGRRQLPQTP------LTPRPSITYKTA>N<S----S--PIHFA----------------- | 2215 |
| CACNA1D | STRSWATPPATPPYRDWTPCYTPLIQVEQS>E<ALDQVNGSLPSLHRSSWYTDEP----DISY | 2053 |
| CACNA1E | -RRSRRQLPPVP------PKPRPLLSYSSL>I<R----H--AGSIS----------------- | 2183 |
| CACNA1F | AQGSWATPPQRG-----RLLYAPLLLVEEG>A<AGEGYLGRS-----------------SGPL | 1872 |
| CACNA1G | ---SWISGDLLPPGGQEEPPSPRDLKKCYS>V<EAQSCQRRPTSWLDEQRRHSIAVSCLDSGS | 2279 |
| CACNA1H | ----------------------RDLRRLYS>V<DAQGFLDKPGR-ADEQWRPSAELGSGEP-- | 2165 |
| CACNA1I | ----------------------PAARRRLS>L<RGRGLFSLRG--LRAHQRSHSSGGSTSPGC | 2097 |
| CACNA1S | CP-----------------------RVESS>M<PEDRKSSTPGSLHE-----ETP-------- | 1767 |
| SCN10A | -------------------S---S--SIQN>E<D-------E--------------------- | 1945 |
| SCN11A | -----------------------G--KVHC>-<------------------------------ | 1790 |
| SCN1A | -------------------Q---E--GKDE>K<A----------------------------- | 2006 |
| SCN2A | -------------------K---D--KSEK>E<D----------------------------- | 1995 |
| SCN3A | -------------------K---D--KPEK>E<S----------------------------- | 1990 |
| SCN4A | -------------------P---A--PPPG>Q<T----------------------------- | 1826 |
| SCN5A | -------------------S---D--YSHS>E<D-------L--------------------- | 2001 |
| SCN7A | -----------------------S--P--->-<------------------------------ | 1677 |
| SCN8A | -------------------E---G--RRER>A<K----------------------------- | 1970 |
| SCN9A | -------------------Q---D--RTEK>E<D----------------------------- | 1967 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.E1978K | c.5932G>A | Putative Benign | SIFT: Polyphen: |