Paralogue Annotation for CACNA1C residue 1239

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1239
Reference Amino Acid: Q - Glutamine
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to CACNA1C residue 1239

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AE1548KBrugada syndromeMedium9 20129283, 24136861
SCN1AE1561KDravet syndromeMedium9 18930999

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.



CACNA1CQYKVWYVVNSTYFEYLMFVLILLNTICLAM>Q<HYGQSCLFKIAMNILNMLFTGLFTVEMILK1269
CACNA1AQYRMWQFVVSPPFEYTIMAMIALNTIVLMM>K<FYGASVAYENALRVFNIVFTSLFSLECVLK1616
CACNA1BQYKTWTFVVSPPFEYFIMAMIALNTVVLMM>K<FYDAPYEYELMLKCLNIVFTSMFSMECVLK1522
CACNA1DQYKFWYVVNSSPFEYMMFVLIMLNTLCLAM>Q<HYEQSKMFNDAMDILNMVFTGVFTVEMVLK1275
CACNA1EQYRVWHFVVSPSFEYTIMAMIALNTVVLMM>K<YYSAPCTYELALKYLNIAFTMVFSLECVLK1528
CACNA1FQYRVWATVNSAAFEYLMFLLILLNTVALAM>Q<HYEQTAPFNYAMDILNMVFTGLFTIEMVLK1240
CACNA1GRLLVHHLCTSHYLDLFITGVIGLNVVTMAM>E<HYQQPQILDEALKICNYIFTVIFVLESVFK1661
CACNA1HRRSIHSLCTSHYLDLFITFIICVNVITMSM>E<HYNQPKSLDEALKYCNYVFTIVFVFEAALK1667
CACNA1IRLLIHSMCTSHYLDIFITFIICLNVVTMSL>E<HYNQPTSLETALKYCNYMFTTVFVLEAVLK1537
CACNA1SQYQVWYIVTSSYFEYLMFALIMLNTICLGM>Q<HYNQSEQMNHISDILNVAFTIIFTLEMILK1168
SCN10AQGFVFDIVTRQAFDITIMVLICLNMITMMV>E<TDDQSEEKTKILGKINQFFVAVFTGECVMK1526
SCN11AQGLVFDIVTSQIFDIIIISLIILNMISMMA>E<SYNQPKAMKSILDHLNWVFVVIFTLECLIK1416
SCN1AQGMVFDFVTRQVFDISIMILICLNMVTMMV>E<TDDQSEYVTTILSRINLVFIVLFTGECVLK1591
SCN2AQGMVFDFVTKQVFDISIMILICLNMVTMMV>E<TDDQSQEMTNILYWINLVFIVLFTGECVLK1581
SCN3AQGMVFDFVTRQVFDISIMILICLNMVTMMV>E<TDDQGKYMTLVLSRINLVFIVLFTGEFVLK1576
SCN4AQGMVYDLVTKQAFDITIMILICLNMVTMMV>E<TDNQSQLKVDILYNINMIFIIIFTGECVLK1403
SCN5AQGFIFDIVTKQAFDVTIMFLICLNMVTMMV>E<TDDQSPEKINILAKINLLFVAIFTGECIVK1578
SCN7AQGFIFDVVTSQAFNVIVMVLICFQAIAMMI>D<TDVQSLQMSIALYWINSIFVMLYTMECILK1301
SCN8AQGIVFDFVTQQAFDIVIMMLICLNMVTMMV>E<TDTQSKQMENILYWINLVFVIFFTCECVLK1572
SCN9AQGCIFDLVTNQAFDISIMVLICLNMVTMMV>E<KEGQSQHMTEVLYWINVVFIILFTGECVLK1554
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1239 for CACNA1C.