Paralogue Annotation for CACNA1C residue 883

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 883
Reference Amino Acid: F - Phenylalanine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to CACNA1C residue 883

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN9AE1160QDravet syndrome ?Medium4 19763161

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in CACNA1C.



CACNA1C-------------LKEKAV-PMPEASAFFI>F<SSNNRFRLQCHRIVNDTIFTNLILFFILLS913
CACNA1AKEEEKKEEEEDDRGEDGPK-PMPPYSSMFI>L<STTNPLRRLCHYILNLRYFEMCILMVIAMS1257
CACNA1BQAEGKKEVEADDVMRSGPR-PIVPYSSMFC>L<SPTNLLRRFCHYIVTMRYFEVVILVVIALS1164
CACNA1D-------------MKEKIA-PIPEGSAFFI>L<SKTNPIRVGCHKLINHHIFTNLILVFIMLS919
CACNA1EEEEVEKKKQKKEKRETG-K-AMVPHSSMFI>F<STTNPIRRACHYIVNLRYFEMCILLVIAAS1166
CACNA1F-------------PKEKVV-PIPEGSAFFC>L<SQTNPLRKGCHTLIHHHVFTNLILVFIILS884
CACNA1G-------------LP-ACCLERDSWSAY-I>F<PPQSRFRLLCHRIITHKMFDHVVLVIIFLN1289
CACNA1H-------------KP-QWCRSREAWALY-L>F<SPQNRFRVSCQKVITHKMFDHVVLVFIFLN1307
CACNA1I-------------KP-DWCEVREDWSVY-L>F<SPENRFRVLCQTIIAHKLFDYVVLAFIFLN1183
CACNA1S-------------LKEKAV-PIPEASSFFI>F<SPTNKIRVLCHRIVNATWFTNFILLFILLS812
SCN10A---DDCFTEGCIRH-CPCCKLDTTKSP--->W<DVGWQVRKTCYRIVEHSWFESFIIFMILLS1165
SCN11A---ERCLPKGFGCC-FPCCSVDKRKPP--->W<VIWWNLRKTCYQIVKHSWFESFIIFVILLS1069
SCN1A---EACFTEGCVQR-FKCCQINVEEGR--->G<KQWWNLRRTCFRIVEHNWFETFIVFMILLS1231
SCN2A---EACFTEDCVRK-FKCCQISIEEGK--->G<KLWWNLRKTCYKIVEHNWFETFIVFMILLS1221
SCN3A---EACFTEGCIKK-FPFCQVSTEEGK--->G<KIWWNLRKTCYSIVEHNWFETFIVFMILLS1219
SCN4A---EECFTEACVQR-WPCLYVDISQGR--->G<KKWWTLRRACFKIVEHNWFETFIVFMILLS1044
SCN5A---EDCFTEGCVRR-CPCCAVDTTQAP--->G<KVWWRLRKTCYHIVEHSWFETFIIFMILLS1218
SCN7A---SKHLKNGCRRG-SSLGQISGASKK--->G<KIWQNIRKTCCKIVENNWFKCFIGLVTLLS947
SCN8A---DACFTEGCVQR-FKCCQVNIEEGL--->G<KSWWILRKTCFLIVEHNWFETFIIFMILLS1211
SCN9A---EACFTDGCVWR-FSCCQVNIESGK--->G<KIWWNIRKTCYKIVEHSWFESFIVLMILLS1194
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 883 for CACNA1C.