Paralogue Annotation for CACNA1C residue 896

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 896
Reference Amino Acid: I - Isoleucine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to CACNA1C residue 896

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AI1214RDravet syndromeHigh9 22848613

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.



CACNA1CLKEKAV-PMPEASAFFIFSSNNRFRLQCHR>I<VNDTIFTNLILFFILLSSISLAAEDPV-QH925
CACNA1AGEDGPK-PMPPYSSMFILSTTNPLRRLCHY>I<LNLRYFEMCILMVIAMSSIALAAEDPV-QP1269
CACNA1BMRSGPR-PIVPYSSMFCLSPTNLLRRFCHY>I<VTMRYFEVVILVVIALSSIALAAEDPV-RT1176
CACNA1DMKEKIA-PIPEGSAFFILSKTNPIRVGCHK>L<INHHIFTNLILVFIMLSSAALAAEDPI-RS931
CACNA1ERETG-K-AMVPHSSMFIFSTTNPIRRACHY>I<VNLRYFEMCILLVIAASSIALAAEDPV-LT1178
CACNA1FPKEKVV-PIPEGSAFFCLSQTNPLRKGCHT>L<IHHHVFTNLILVFIILSSVSLAAEDPI-RA896
CACNA1GLP-ACCLERDSWSAY-IFPPQSRFRLLCHR>I<ITHKMFDHVVLVIIFLNCITIAMERPKIDP1302
CACNA1HKP-QWCRSREAWALY-LFSPQNRFRVSCQK>V<ITHKMFDHVVLVFIFLNCVTIALERPDIDP1320
CACNA1IKP-DWCEVREDWSVY-LFSPENRFRVLCQT>I<IAHKLFDYVVLAFIFLNCITIALERPQIEA1196
CACNA1SLKEKAV-PIPEASSFFIFSPTNKIRVLCHR>I<VNATWFTNFILLFILLSSAALAAEDPI-RA824
SCN10AH-CPCCKLDTTKSP---WDVGWQVRKTCYR>I<VEHSWFESFIIFMILLSSGSLAFEDYYLDQ1178
SCN11AC-FPCCSVDKRKPP---WVIWWNLRKTCYQ>I<VKHSWFESFIIFVILLSSGALIFEDVHLEN1082
SCN1AR-FKCCQINVEEGR---GKQWWNLRRTCFR>I<VEHNWFETFIVFMILLSSGALAFEDIYIDQ1244
SCN2AK-FKCCQISIEEGK---GKLWWNLRKTCYK>I<VEHNWFETFIVFMILLSSGALAFEDIYIEQ1234
SCN3AK-FPFCQVSTEEGK---GKIWWNLRKTCYS>I<VEHNWFETFIVFMILLSSGALAFEDIYIEQ1232
SCN4AR-WPCLYVDISQGR---GKKWWTLRRACFK>I<VEHNWFETFIVFMILLSSGALAFEDIYIEQ1057
SCN5AR-CPCCAVDTTQAP---GKVWWRLRKTCYH>I<VEHSWFETFIIFMILLSSGALAFEDIYLEE1231
SCN7AG-SSLGQISGASKK---GKIWQNIRKTCCK>I<VENNWFKCFIGLVTLLSTGTLAFEDIYMDQ960
SCN8AR-FKCCQVNIEEGL---GKSWWILRKTCFL>I<VEHNWFETFIIFMILLSSGALAFEDIYIEQ1224
SCN9AR-FSCCQVNIESGK---GKIWWNIRKTCYK>I<VEHSWFESFIVLMILLSSGALAFEDIYIER1207
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 896 for CACNA1C.