No paralogue variants have been mapped to residue 869 for CACNA1C.
CACNA1C | ----------H-----------------LK>E<KAV-PMPEASAFFIFSSNNRFRLQCHRIVN | 898 |
CACNA1A | VVQVNKNANPDPLPKKEEEKKEEEEDDRGE>D<GPK-PMPPYSSMFILSTTNPLRRLCHYILN | 1242 |
CACNA1B | TVVPSGNVD---LESQAEGKKEVEADDVMR>S<GPR-PIVPYSSMFCLSPTNLLRRFCHYIVT | 1149 |
CACNA1D | ----------N-----------------MK>E<KIA-PIPEGSAFFILSKTNPIRVGCHKLIN | 904 |
CACNA1E | SPLKEAEI----REDEEEVEKKKQKKEKRE>T<G-K-AMVPHSSMFIFSTTNPIRRACHYIVN | 1151 |
CACNA1F | ----------V-----------------PK>E<KVV-PIPEGSAFFCLSQTNPLRKGCHTLIH | 869 |
CACNA1G | ----------R-----------------LP>-<ACCLERDSWSAY-IFPPQSRFRLLCHRIIT | 1274 |
CACNA1H | ----------Y-----------------KP>-<QWCRSREAWALY-LFSPQNRFRVSCQKVIT | 1292 |
CACNA1I | ----------Y-----------------KP>-<DWCEVREDWSVY-LFSPENRFRVLCQTIIA | 1168 |
CACNA1S | ----------Q-----------------LK>E<KAV-PIPEASSFFIFSPTNKIRVLCHRIVN | 797 |
SCN10A | ------------------DDCFTEGCIRH->C<PCCKLDTTKSP---WDVGWQVRKTCYRIVE | 1150 |
SCN11A | ------------------ERCLPKGFGCC->F<PCCSVDKRKPP---WVIWWNLRKTCYQIVK | 1054 |
SCN1A | ------------------EACFTEGCVQR->F<KCCQINVEEGR---GKQWWNLRRTCFRIVE | 1216 |
SCN2A | ------------------EACFTEDCVRK->F<KCCQISIEEGK---GKLWWNLRKTCYKIVE | 1206 |
SCN3A | ------------------EACFTEGCIKK->F<PFCQVSTEEGK---GKIWWNLRKTCYSIVE | 1204 |
SCN4A | ------------------EECFTEACVQR->W<PCLYVDISQGR---GKKWWTLRRACFKIVE | 1029 |
SCN5A | ------------------EDCFTEGCVRR->C<PCCAVDTTQAP---GKVWWRLRKTCYHIVE | 1203 |
SCN7A | ------------------SKHLKNGCRRG->S<SLGQISGASKK---GKIWQNIRKTCCKIVE | 932 |
SCN8A | ------------------DACFTEGCVQR->F<KCCQVNIEEGL---GKSWWILRKTCFLIVE | 1196 |
SCN9A | ------------------EACFTDGCVWR->F<SCCQVNIESGK---GKIWWNIRKTCYKIVE | 1179 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E869G | c.2606A>G | Putative Benign | SIFT: Polyphen: |