Paralogue Annotation for CACNA1C residue 1269

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1269
Reference Amino Acid: K - Lysine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1269

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AK1578NSinus node dysfunction and atrial flutterHigh9 25346400

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.



CACNA1CQHYGQSCLFKIAMNILNMLFTGLFTVEMIL>K<LIAFKPKHYFCDAWNTFDALIVVGSIVDIA1299
CACNA1AKFYGASVAYENALRVFNIVFTSLFSLECVL>K<VMAFGILNYFRDAWNIFDFVTVLGSITDIL1646
CACNA1BKFYDAPYEYELMLKCLNIVFTSMFSMECVL>K<IIAFGVLNYFRDAWNVFDFVTVLGSITDIL1552
CACNA1DQHYEQSKMFNDAMDILNMVFTGVFTVEMVL>K<VIAFKPKGYFSDAWNTFDSLIVIGSIIDVA1305
CACNA1EKYYSAPCTYELALKYLNIAFTMVFSLECVL>K<VIAFGFLNYFRDTWNIFDFITVIGSITEII1558
CACNA1FQHYEQTAPFNYAMDILNMVFTGLFTIEMVL>K<IIAFKPKHYFTDAWNTFDALIVVGSIVDIA1270
CACNA1GEHYQQPQILDEALKICNYIFTVIFVLESVF>K<LVAFGFRRFFQDRWNQLDLAIVLLSIMGIT1691
CACNA1HEHYNQPKSLDEALKYCNYVFTIVFVFEAAL>K<LVAFGFRRFFKDRWNQLDLAIVLLSLMGIT1697
CACNA1IEHYNQPTSLETALKYCNYMFTTVFVLEAVL>K<LVAFGLRRFFKDRWNQLDLAIVLLSVMGIT1567
CACNA1SQHYNQSEQMNHISDILNVAFTIIFTLEMIL>K<LMAFKARGYFGDPWNVFDFLIVIGSIIDVI1198
SCN10AETDDQSEEKTKILGKINQFFVAVFTGECVM>K<MFALR-QYYFTNGWNVFDFIVVVLSIASLI1555
SCN11AESYNQPKAMKSILDHLNWVFVVIFTLECLI>K<IFALR-QYYFTNGWNLFDCVVVLLSIVSTM1445
SCN1AETDDQSEYVTTILSRINLVFIVLFTGECVL>K<LISLR-HYYFTIGWNIFDFVVVILSIVGMF1620
SCN2AETDDQSQEMTNILYWINLVFIVLFTGECVL>K<LISLR-YYYFTIGWNIFDFVVVILSIVGMF1610
SCN3AETDDQGKYMTLVLSRINLVFIVLFTGEFVL>K<LVSLR-HYYFTIGWNIFDFVVVILSIVGMF1605
SCN4AETDNQSQLKVDILYNINMIFIIIFTGECVL>K<MLALR-QYYFTVGWNIFDFVVVILSIVGLA1432
SCN5AETDDQSPEKINILAKINLLFVAIFTGECIV>K<LAALR-HYYFTNSWNIFDFVVVILSIVGTV1607
SCN7ADTDVQSLQMSIALYWINSIFVMLYTMECIL>K<LIAFR-CFYFTIAWNIFDFMVVIFSITGLC1330
SCN8AETDTQSKQMENILYWINLVFVIFFTCECVL>K<MFALR-HYYFTIGWNIFDFVVVILSIVGMF1601
SCN9AEKEGQSQHMTEVLYWINVVFIILFTGECVL>K<LISLR-HYYFTVGWNIFDFVVVIISIVGMF1583
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1269 for CACNA1C.