Paralogue Annotation for CACNA1C residue 918

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 918
Reference Amino Acid: A - Alanine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 918

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AA1236PDravet syndromeHigh9 24168886

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.



CACNA1CRFRLQCHRIVNDTIFTNLILFFILLSSISL>A<AEDPV-QHTSFRNHILFYFDIVFTTIFTIE947
CACNA1APLRRLCHYILNLRYFEMCILMVIAMSSIAL>A<AEDPV-QPNAPRNNVLRYFDYVFTGVFTFE1291
CACNA1BLLRRFCHYIVTMRYFEVVILVVIALSSIAL>A<AEDPV-RTDSPRNNALKYLDYIFTGVFTFE1198
CACNA1DPIRVGCHKLINHHIFTNLILVFIMLSSAAL>A<AEDPI-RSHSFRNTILGYFDYAFTAIFTVE953
CACNA1EPIRRACHYIVNLRYFEMCILLVIAASSIAL>A<AEDPV-LTNSERNKVLRYFDYVFTGVFTFE1200
CACNA1FPLRKGCHTLIHHHVFTNLILVFIILSSVSL>A<AEDPI-RAHSFRNHILGYFDYAFTSIFTVE918
CACNA1GRFRLLCHRIITHKMFDHVVLVIIFLNCITI>A<MERPKIDPHSAERIFLTLSNYIFTAVFLAE1324
CACNA1HRFRVSCQKVITHKMFDHVVLVFIFLNCVTI>A<LERPDIDPGSTERVFLSVSNYIFTAIFVAE1342
CACNA1IRFRVLCQTIIAHKLFDYVVLAFIFLNCITI>A<LERPQIEAGSTERIFLTVSNYIFTAIFVGE1218
CACNA1SKIRVLCHRIVNATWFTNFILLFILLSSAAL>A<AEDPI-RADSMRNQILKHFDIGFTSVFTVE846
SCN10AQVRKTCYRIVEHSWFESFIIFMILLSSGSL>A<FEDYYLDQKPTVKALLEYTDRVFTFIFVFE1200
SCN11ANLRKTCYQIVKHSWFESFIIFVILLSSGAL>I<FEDVHLENQPKIQELLNCTDIIFTHIFILE1104
SCN1ANLRRTCFRIVEHNWFETFIVFMILLSSGAL>A<FEDIYIDQRKTIKTMLEYADKVFTYIFILE1266
SCN2ANLRKTCYKIVEHNWFETFIVFMILLSSGAL>A<FEDIYIEQRKTIKTMLEYADKVFTYIFILE1256
SCN3ANLRKTCYSIVEHNWFETFIVFMILLSSGAL>A<FEDIYIEQRKTIKTMLEYADKVFTYIFILE1254
SCN4ATLRRACFKIVEHNWFETFIVFMILLSSGAL>A<FEDIYIEQRRVIRTILEYADKVFTYIFIME1079
SCN5ARLRKTCYHIVEHSWFETFIIFMILLSSGAL>A<FEDIYLEERKTIKVLLEYADKMFTYVFVLE1253
SCN7ANIRKTCCKIVENNWFKCFIGLVTLLSTGTL>A<FEDIYMDQRKTIKILLEYADMIFTYIFILE982
SCN8AILRKTCFLIVEHNWFETFIIFMILLSSGAL>A<FEDIYIEQRKTIRTILEYADKVFTYIFILE1246
SCN9ANIRKTCYKIVEHSWFESFIVLMILLSSGAL>A<FEDIYIERKKTIKIILEYADKIFTYIFILE1229
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 918 for CACNA1C.