Paralogue Annotation for CACNA1C residue 947

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 947
Reference Amino Acid: E - Glutamate
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 947

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AE1253GBrugada syndromeHigh9 20129283, 24136861
SCN1AE1266ADravet syndrome C ?High9 21248271

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.



CACNA1CAAEDPV-QHTSFRNHILFYFDIVFTTIFTI>E<IALKMTAYGAFLHKGSFCRNYFNILDLLVV977
CACNA1AAAEDPV-QPNAPRNNVLRYFDYVFTGVFTF>E<MVIKMIDLGLVLHQGAYFRDLWNILDFIVV1321
CACNA1BAAEDPV-RTDSPRNNALKYLDYIFTGVFTF>E<MVIKMIDLGLLLHPGAYFRDLWNILDFIVV1228
CACNA1DAAEDPI-RSHSFRNTILGYFDYAFTAIFTV>E<ILLKMTTFGAFLHKGAFCRNYFNLLDMLVV983
CACNA1EAAEDPV-LTNSERNKVLRYFDYVFTGVFTF>E<MVIKMIDQGLILQDGSYFRDLWNILDFVVV1230
CACNA1FAAEDPI-RAHSFRNHILGYFDYAFTSIFTV>E<ILLKMTVFGAFLHRGSFCRSWFNMLDLLVV948
CACNA1GAMERPKIDPHSAERIFLTLSNYIFTAVFLA>E<MTVKVVALGWCFGEQAYLRSSWNVLDGLLV1354
CACNA1HALERPDIDPGSTERVFLSVSNYIFTAIFVA>E<MMVKVVALGLLSGEHAYLQSSWNLLDGLLV1372
CACNA1IALERPQIEAGSTERIFLTVSNYIFTAIFVG>E<MTLKVVSLGLYFGEQAYLRSSWNVLDGFLV1248
CACNA1SAAEDPI-RADSMRNQILKHFDIGFTSVFTV>E<IVLKMTTYGAFLHKGSFCRNYFNMLDLLVV876
SCN10AAFEDYYLDQKPTVKALLEYTDRVFTFIFVF>E<MLLKWVAYGF----KKYFTNAWCWLDFLIV1226
SCN11AIFEDVHLENQPKIQELLNCTDIIFTHIFIL>E<MVLKWVAFGF----GKYFTSAWCCLDFIIV1130
SCN1AAFEDIYIDQRKTIKTMLEYADKVFTYIFIL>E<MLLKWVAYGY----QTYFTNAWCWLDFLIV1292
SCN2AAFEDIYIEQRKTIKTMLEYADKVFTYIFIL>E<MLLKWVAYGF----QVYFTNAWCWLDFLIV1282
SCN3AAFEDIYIEQRKTIKTMLEYADKVFTYIFIL>E<MLLKWVAYGF----QTYFTNAWCWLDFLIV1280
SCN4AAFEDIYIEQRRVIRTILEYADKVFTYIFIM>E<MLLKWVAYGF----KVYFTNAWCWLDFLIV1105
SCN5AAFEDIYLEERKTIKVLLEYADKMFTYVFVL>E<MLLKWVAYGF----KKYFTNAWCWLDFLIV1279
SCN7AAFEDIYMDQRKTIKILLEYADMIFTYIFIL>E<MLLKWMAYGF----KAYFSNGWYRLDFVVV1008
SCN8AAFEDIYIEQRKTIRTILEYADKVFTYIFIL>E<MLLKWTAYGF----VKFFTNAWCWLDFLIV1272
SCN9AAFEDIYIERKKTIKIILEYADKIFTYIFIL>E<MLLKWIAYGY----KTYFTNAWCWLDFLIV1255
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 947 for CACNA1C.