Paralogue Annotation for CACNA1C residue 747

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 747
Reference Amino Acid: V - Valine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 747

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL986PDravet syndromeMedium9 18930999
SCN1AL986FMyoclonic epilepsy of infancyMedium9 11359211, 14672992, 14672992, 23086956

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.



CACNA1CMAYGGPSFPGMLVCIYFIILFICGNYILLN>V<FLAIAVDNLADAESLTSAQKEEEEE-KERK776
CACNA1AKSQGGV-QGGMVFSIYFIVLTLFGNYTLLN>V<FLAIAVDNLANAQELTKDEQEEEEA-ANQK737
CACNA1BESQGGV-SKGMFSSFYFIVLTLFGNYTLLN>V<FLAIAVDNLANAQELTKDEEEMEEA-ANQK733
CACNA1DMAYGGPSSSGMIVCIYFIILFICGNYILLN>V<FLAIAVDNLADAESLNTAQKEEAEE-KERK795
CACNA1ERSQGGV-SSGMWSAIYFIVLTLFGNYTLLN>V<FLAIAVDNLANAQELTKDEQEEEEA-FNQK726
CACNA1FMAYGGPFFPGMLVCIYFIILFICGNYILLN>V<FLAIAVDNLASGDA-GTAKDKGGEK-SNEK780
CACNA1GAS-T-S----SWAALYFIALMTFGNYVLFN>L<LVAILVEGFQ-AEEISKREDASGQL-SCIQ986
CACNA1HAS-T-S----SWAALYFVALMTFGNYVLFN>L<LVAILVEGFQ-AEGDANRSDTDEDKTSVHF1038
CACNA1IAS-T-S----PWASLYFVALMTFGNYVLFN>L<LVAILVEGFQAEGDAN-RSYSDEDQSSSNI885
CACNA1SMAYGGPSYPGMLVCIYFIILFVCGNYILLN>V<FLAIAVDNLAEAESLTSAQKAKAEE-KKRR684
SCN10AEV-----GQKSICLILFLTVMVLGNLVVLN>L<FIALLLNSFS-ADNLTAP-EDDGEV-NNLQ911
SCN11AQEAN---ASSSLCVIVFILITVIGKLVVLN>L<FIALLLNSFS-NEERNGNLEGEARK-TKVQ833
SCN1AEV-----AGQAMCLTVFMMVMVIGNLVVLN>L<FLALLLSSFS-ADNLAAT-DDDNEM-NNLQ1013
SCN2AEV-----AGQTMCLTVFMMVMVIGNLVVLN>L<FLALLLSSFS-SDNLAAT-DDDNEM-NNLQ1004
SCN3AEV-----AGQTMCLIVFMLVMVIGNLVVLN>L<FLALLLSSFS-SDNLAAT-DDDNEM-NNLQ1005
SCN4AEV-----AGQAMCLTVFLMVMVIGNLVVLN>L<FLALLLSSFS-ADSLAAS-DEDGEM-NNLQ823
SCN5AEV-----SGQSLCLLVFLLVMVIGNLVVLN>L<FLALLLSSFS-ADNLTAP-DEDREM-NNLQ960
SCN7AEV-----AGQSWCIPFYLMVILIGNLLVLY>L<FLA-LVSSFS-SCKDVTA-EENNEA-KNLQ749
SCN8AEV-----AGQAMCLIVFMMVMVIGNLVVLN>L<FLALLLSSFS-ADNLAAT-DDDGEM-NNLQ998
SCN9AEV-----AGQAMCLIVYMMVMVIGNLVVLN>L<FLALLLSSFS-SDNLTAI-EEDPDA-NNLQ978
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 747 for CACNA1C.