Paralogue Annotation for CACNA1C residue 1233

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1233
Reference Amino Acid: T - Threonine
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to CACNA1C residue 1233

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AM1555RMyoclonic epilepsy of infancyMedium9 23195492

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.



CACNA1CK--NQHQYKVWYVVNSTYFEYLMFVLILLN>T<ICLAMQHYGQSCLFKIAMNILNMLFTGLFT1263
CACNA1AQNKQSFQYRMWQFVVSPPFEYTIMAMIALN>T<IVLMMKFYGASVAYENALRVFNIVFTSLFS1610
CACNA1BQNRQSFQYKTWTFVVSPPFEYFIMAMIALN>T<VVLMMKFYDAPYEYELMLKCLNIVFTSMFS1516
CACNA1DK--NPYQYKFWYVVNSSPFEYMMFVLIMLN>T<LCLAMQHYEQSKMFNDAMDILNMVFTGVFT1269
CACNA1EQNRHTFQYRVWHFVVSPSFEYTIMAMIALN>T<VVLMMKYYSAPCTYELALKYLNIAFTMVFS1522
CACNA1FK--NPHQYRVWATVNSAAFEYLMFLLILLN>T<VALAMQHYEQTAPFNYAMDILNMVFTGLFT1234
CACNA1GSDYSRFRLLVHHLCTSHYLDLFITGVIGLN>V<VTMAMEHYQQPQILDEALKICNYIFTVIFV1655
CACNA1HADYSPTRRSIHSLCTSHYLDLFITFIICVN>V<ITMSMEHYNQPKSLDEALKYCNYVFTIVFV1661
CACNA1IATYCHTRLLIHSMCTSHYLDIFITFIICLN>V<VTMSLEHYNQPTSLETALKYCNYMFTTVFV1531
CACNA1SK--NPYQYQVWYIVTSSYFEYLMFALIMLN>T<ICLGMQHYNQSEQMNHISDILNVAFTIIFT1162
SCN10ARPLNKFQGFVFDIVTRQAFDITIMVLICLN>M<ITMMVETDDQSEEKTKILGKINQFFVAVFT1520
SCN11ARPLNKCQGLVFDIVTSQIFDIIIISLIILN>M<ISMMAESYNQPKAMKSILDHLNWVFVVIFT1410
SCN1ARPGNKFQGMVFDFVTRQVFDISIMILICLN>M<VTMMVETDDQSEYVTTILSRINLVFIVLFT1585
SCN2ARPANKFQGMVFDFVTKQVFDISIMILICLN>M<VTMMVETDDQSQEMTNILYWINLVFIVLFT1575
SCN3ARPANKFQGMVFDFVTRQVFDISIMILICLN>M<VTMMVETDDQGKYMTLVLSRINLVFIVLFT1570
SCN4ARPQNKIQGMVYDLVTKQAFDITIMILICLN>M<VTMMVETDNQSQLKVDILYNINMIFIIIFT1397
SCN5ARPLNKYQGFIFDIVTKQAFDVTIMFLICLN>M<VTMMVETDDQSPEKINILAKINLLFVAIFT1572
SCN7ARPLNKLQGFIFDVVTSQAFNVIVMVLICFQ>A<IAMMIDTDVQSLQMSIALYWINSIFVMLYT1295
SCN8ARPLNKIQGIVFDFVTQQAFDIVIMMLICLN>M<VTMMVETDTQSKQMENILYWINLVFVIFFT1566
SCN9ARPGNKIQGCIFDLVTNQAFDISIMVLICLN>M<VTMMVEKEGQSQHMTEVLYWINVVFIILFT1548
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1233 for CACNA1C.