No paralogue variants have been mapped to residue 805 for CACNA1C.
CACNA1C | --------------------------EEKI>E<LKSIT---------------------ADG- | 813 |
CACNA1A | RESRSGSPRTG------ADGEHRRHRAHRR>-<-PGEEGP-EDKAE--RRARHREGSRPARGG | 990 |
CACNA1B | RHHRRGSPEEA------AEREPRRHRAHRH>-<-QDPSKE-CAGAKGERRARHRG-G--PR-- | 964 |
CACNA1D | ------------------------------>-<-NQIA---------------------NSD- | 820 |
CACNA1E | RQSQRRSRHRRVRTEGKESSSASRSRSASQ>E<RSLDEAM-PTEGE--KDHELRGNHG-A--- | 968 |
CACNA1F | ------------------------------>-<------------------------------ | |
CACNA1G | RRSPSGERRSL------LSG---------->-<-EGQESQ-DEEES--SEEERASPAG----S | 1156 |
CACNA1H | RRGQCGERESL------LSG---------->-<-EGKGST-DDEAE--DGRAAPGPRA----T | 1191 |
CACNA1I | ---PSAEHESL------LSA---------->-<-ERGGGARVCE----VAADEGPPRAAPL-H | 1033 |
CACNA1S | ------------------------------>-<-EQKP---------------------KGE- | 712 |
SCN10A | VSVPIAEGESD------LDD---------->-<-LEDDGGEDAQ----SFQQEVIPKGQQE-Q | 1032 |
SCN11A | WLAPLAEEEDD------VEF---------->-<-SGED------------------------- | 932 |
SCN1A | VTVPIAVGESD------FEN---------->-<-LNTE------------------------- | 1130 |
SCN2A | VTVPIAVGESD------FEN---------->-<-LNTE------------------------- | 1120 |
SCN3A | VTVPIAVGESD------FEN---------->-<-LNTE------------------------- | 1118 |
SCN4A | IQVPIASEESD------LEM---------->-<-PTEE------------------------- | 939 |
SCN5A | VCVPIAVAESD------TDD---------->-<-QEED------------------------- | 1062 |
SCN7A | ETVPIASGESD------IEN---------->-<-LDNK------------------------- | 851 |
SCN8A | VRVPIAVGESD------FEN---------->-<-LNTE------------------------- | 1111 |
SCN9A | VTVPIAPGESD------LEN---------->-<-MNAE------------------------- | 1093 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E805D | c.2415G>T | Putative Benign | SIFT: Polyphen: |