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: |