No paralogue variants have been mapped to residue 884 for CACNA1C.
CACNA1C | ------------LKEKAV-PMPEASAFFIF>S<SNNRFRLQCHRIVNDTIFTNLILFFILLSS | 914 |
CACNA1A | EEEKKEEEEDDRGEDGPK-PMPPYSSMFIL>S<TTNPLRRLCHYILNLRYFEMCILMVIAMSS | 1258 |
CACNA1B | AEGKKEVEADDVMRSGPR-PIVPYSSMFCL>S<PTNLLRRFCHYIVTMRYFEVVILVVIALSS | 1165 |
CACNA1D | ------------MKEKIA-PIPEGSAFFIL>S<KTNPIRVGCHKLINHHIFTNLILVFIMLSS | 920 |
CACNA1E | EEVEKKKQKKEKRETG-K-AMVPHSSMFIF>S<TTNPIRRACHYIVNLRYFEMCILLVIAASS | 1167 |
CACNA1F | ------------PKEKVV-PIPEGSAFFCL>S<QTNPLRKGCHTLIHHHVFTNLILVFIILSS | 885 |
CACNA1G | ------------LP-ACCLERDSWSAY-IF>P<PQSRFRLLCHRIITHKMFDHVVLVIIFLNC | 1290 |
CACNA1H | ------------KP-QWCRSREAWALY-LF>S<PQNRFRVSCQKVITHKMFDHVVLVFIFLNC | 1308 |
CACNA1I | ------------KP-DWCEVREDWSVY-LF>S<PENRFRVLCQTIIAHKLFDYVVLAFIFLNC | 1184 |
CACNA1S | ------------LKEKAV-PIPEASSFFIF>S<PTNKIRVLCHRIVNATWFTNFILLFILLSS | 813 |
SCN10A | --DDCFTEGCIRH-CPCCKLDTTKSP---W>D<VGWQVRKTCYRIVEHSWFESFIIFMILLSS | 1166 |
SCN11A | --ERCLPKGFGCC-FPCCSVDKRKPP---W>V<IWWNLRKTCYQIVKHSWFESFIIFVILLSS | 1070 |
SCN1A | --EACFTEGCVQR-FKCCQINVEEGR---G>K<QWWNLRRTCFRIVEHNWFETFIVFMILLSS | 1232 |
SCN2A | --EACFTEDCVRK-FKCCQISIEEGK---G>K<LWWNLRKTCYKIVEHNWFETFIVFMILLSS | 1222 |
SCN3A | --EACFTEGCIKK-FPFCQVSTEEGK---G>K<IWWNLRKTCYSIVEHNWFETFIVFMILLSS | 1220 |
SCN4A | --EECFTEACVQR-WPCLYVDISQGR---G>K<KWWTLRRACFKIVEHNWFETFIVFMILLSS | 1045 |
SCN5A | --EDCFTEGCVRR-CPCCAVDTTQAP---G>K<VWWRLRKTCYHIVEHSWFETFIIFMILLSS | 1219 |
SCN7A | --SKHLKNGCRRG-SSLGQISGASKK---G>K<IWQNIRKTCCKIVENNWFKCFIGLVTLLST | 948 |
SCN8A | --DACFTEGCVQR-FKCCQVNIEEGL---G>K<SWWILRKTCFLIVEHNWFETFIIFMILLSS | 1212 |
SCN9A | --EACFTDGCVWR-FSCCQVNIESGK---G>K<IWWNIRKTCYKIVEHSWFESFIVLMILLSS | 1195 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S884R | c.2650A>C | Putative Benign | SIFT: Polyphen: |