No paralogue variants have been mapped to residue 1947 for CACNA1C.
CACNA1C | AVAGLSP--LL------------QRSHSPA>S<FPRPFATPPATPGSRGWPPQPVPTLRLEGV | 1977 |
CACNA1A | QHH--------------HHHHHHHHPPPPD>K<DRYAQ-ERPDHG------RARARDQRWS-- | 2247 |
CACNA1B | PTAGQEPGPHPQGSGSVNGSPLLSTSGAST>P<GRGGRRQLPQTP------LTPRPSITYKTA | 2207 |
CACNA1D | AVAGLDS--SK------------AQKYSPS>H<STRSWATPPATPPYRDWTPCYTPLIQVEQS | 2026 |
CACNA1E | PSEGRSQTPNRQGTGSLSESSIPSVSDTST>P<-RRSRRQLPPVP------PKPRPLLSYSSL | 2175 |
CACNA1F | ---------HR------------GRNSGPN>R<AQGSWATPPQRG-----RLLYAPLLLVEEG | 1858 |
CACNA1G | L----------------------------->-<---SWISGDLLPPGGQEEPPSPRDLKKCYS | 2248 |
CACNA1H | ------------------------------>-<----------------------RDLRRLYS | 2137 |
CACNA1I | ------------------------------>-<----------------------PAARRRLS | 2068 |
CACNA1S | LTQRAMP--RG------------QAPPAPC>Q<CP-----------------------RVESS | 1749 |
SCN10A | ------------------------------>-<-------------------S---S--SIQN | 1942 |
SCN11A | ------------------------------>-<-----------------------G--KVHC | 1790 |
SCN1A | ------------------------------>-<-------------------Q---E--GKDE | 2004 |
SCN2A | ------------------------------>-<-------------------K---D--KSEK | 1993 |
SCN3A | ------------------------------>-<-------------------K---D--KPEK | 1988 |
SCN4A | ------------------------------>-<-------------------P---A--PPPG | 1824 |
SCN5A | ------------------------------>-<-------------------S---D--YSHS | 1998 |
SCN7A | ------------------------------>-<-----------------------S--P--- | 1677 |
SCN8A | ------------------------------>-<-------------------E---G--RRER | 1968 |
SCN9A | ------------------------------>-<-------------------Q---D--RTEK | 1965 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S1947P | c.5839T>C | Putative Benign | SIFT: Polyphen: |