Paralogue Annotation for CACNA1C residue 933

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 933
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 933

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AL1239PBrugada syndromeHigh9 20129283

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.



CACNA1CNLILFFILLSSISLAAEDPV-QHTSFRNHI>L<FYFDIVFTTIFTIEIALKMTAYGAFLHKGS963
CACNA1AMCILMVIAMSSIALAAEDPV-QPNAPRNNV>L<RYFDYVFTGVFTFEMVIKMIDLGLVLHQGA1307
CACNA1BVVILVVIALSSIALAAEDPV-RTDSPRNNA>L<KYLDYIFTGVFTFEMVIKMIDLGLLLHPGA1214
CACNA1DNLILVFIMLSSAALAAEDPI-RSHSFRNTI>L<GYFDYAFTAIFTVEILLKMTTFGAFLHKGA969
CACNA1EMCILLVIAASSIALAAEDPV-LTNSERNKV>L<RYFDYVFTGVFTFEMVIKMIDQGLILQDGS1216
CACNA1FNLILVFIILSSVSLAAEDPI-RAHSFRNHI>L<GYFDYAFTSIFTVEILLKMTVFGAFLHRGS934
CACNA1GHVVLVIIFLNCITIAMERPKIDPHSAERIF>L<TLSNYIFTAVFLAEMTVKVVALGWCFGEQA1340
CACNA1HHVVLVFIFLNCVTIALERPDIDPGSTERVF>L<SVSNYIFTAIFVAEMMVKVVALGLLSGEHA1358
CACNA1IYVVLAFIFLNCITIALERPQIEAGSTERIF>L<TVSNYIFTAIFVGEMTLKVVSLGLYFGEQA1234
CACNA1SNFILLFILLSSAALAAEDPI-RADSMRNQI>L<KHFDIGFTSVFTVEIVLKMTTYGAFLHKGS862
SCN10ASFIIFMILLSSGSLAFEDYYLDQKPTVKAL>L<EYTDRVFTFIFVFEMLLKWVAYGF----KK1212
SCN11ASFIIFVILLSSGALIFEDVHLENQPKIQEL>L<NCTDIIFTHIFILEMVLKWVAFGF----GK1116
SCN1ATFIVFMILLSSGALAFEDIYIDQRKTIKTM>L<EYADKVFTYIFILEMLLKWVAYGY----QT1278
SCN2ATFIVFMILLSSGALAFEDIYIEQRKTIKTM>L<EYADKVFTYIFILEMLLKWVAYGF----QV1268
SCN3ATFIVFMILLSSGALAFEDIYIEQRKTIKTM>L<EYADKVFTYIFILEMLLKWVAYGF----QT1266
SCN4ATFIVFMILLSSGALAFEDIYIEQRRVIRTI>L<EYADKVFTYIFIMEMLLKWVAYGF----KV1091
SCN5ATFIIFMILLSSGALAFEDIYLEERKTIKVL>L<EYADKMFTYVFVLEMLLKWVAYGF----KK1265
SCN7ACFIGLVTLLSTGTLAFEDIYMDQRKTIKIL>L<EYADMIFTYIFILEMLLKWMAYGF----KA994
SCN8ATFIIFMILLSSGALAFEDIYIEQRKTIRTI>L<EYADKVFTYIFILEMLLKWTAYGF----VK1258
SCN9ASFIVLMILLSSGALAFEDIYIERKKTIKII>L<EYADKIFTYIFILEMLLKWIAYGY----KT1241
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 933 for CACNA1C.