Paralogue Annotation for CACNA1C residue 894

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 894
Reference Amino Acid: H - Histidine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to CACNA1C residue 894

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AY1199SLong QT syndromeMedium9 19716085

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-PMPEASAFFIFSSNNRFRLQC>H<RIVNDTIFTNLILFFILLSSISLAAEDPV-923
CACNA1ADRGEDGPK-PMPPYSSMFILSTTNPLRRLC>H<YILNLRYFEMCILMVIAMSSIALAAEDPV-1267
CACNA1BDVMRSGPR-PIVPYSSMFCLSPTNLLRRFC>H<YIVTMRYFEVVILVVIALSSIALAAEDPV-1174
CACNA1D--MKEKIA-PIPEGSAFFILSKTNPIRVGC>H<KLINHHIFTNLILVFIMLSSAALAAEDPI-929
CACNA1EEKRETG-K-AMVPHSSMFIFSTTNPIRRAC>H<YIVNLRYFEMCILLVIAASSIALAAEDPV-1176
CACNA1F--PKEKVV-PIPEGSAFFCLSQTNPLRKGC>H<TLIHHHVFTNLILVFIILSSVSLAAEDPI-894
CACNA1G--LP-ACCLERDSWSAY-IFPPQSRFRLLC>H<RIITHKMFDHVVLVIIFLNCITIAMERPKI1300
CACNA1H--KP-QWCRSREAWALY-LFSPQNRFRVSC>Q<KVITHKMFDHVVLVFIFLNCVTIALERPDI1318
CACNA1I--KP-DWCEVREDWSVY-LFSPENRFRVLC>Q<TIIAHKLFDYVVLAFIFLNCITIALERPQI1194
CACNA1S--LKEKAV-PIPEASSFFIFSPTNKIRVLC>H<RIVNATWFTNFILLFILLSSAALAAEDPI-822
SCN10AIRH-CPCCKLDTTKSP---WDVGWQVRKTC>Y<RIVEHSWFESFIIFMILLSSGSLAFEDYYL1176
SCN11AGCC-FPCCSVDKRKPP---WVIWWNLRKTC>Y<QIVKHSWFESFIIFVILLSSGALIFEDVHL1080
SCN1AVQR-FKCCQINVEEGR---GKQWWNLRRTC>F<RIVEHNWFETFIVFMILLSSGALAFEDIYI1242
SCN2AVRK-FKCCQISIEEGK---GKLWWNLRKTC>Y<KIVEHNWFETFIVFMILLSSGALAFEDIYI1232
SCN3AIKK-FPFCQVSTEEGK---GKIWWNLRKTC>Y<SIVEHNWFETFIVFMILLSSGALAFEDIYI1230
SCN4AVQR-WPCLYVDISQGR---GKKWWTLRRAC>F<KIVEHNWFETFIVFMILLSSGALAFEDIYI1055
SCN5AVRR-CPCCAVDTTQAP---GKVWWRLRKTC>Y<HIVEHSWFETFIIFMILLSSGALAFEDIYL1229
SCN7ARRG-SSLGQISGASKK---GKIWQNIRKTC>C<KIVENNWFKCFIGLVTLLSTGTLAFEDIYM958
SCN8AVQR-FKCCQVNIEEGL---GKSWWILRKTC>F<LIVEHNWFETFIIFMILLSSGALAFEDIYI1222
SCN9AVWR-FSCCQVNIESGK---GKIWWNIRKTC>Y<KIVEHSWFESFIVLMILLSSGALAFEDIYI1205
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 894 for CACNA1C.