Paralogue Annotation for CACNA1C residue 1236

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1236
Reference Amino Acid: L - Leucine
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to CACNA1C residue 1236

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AM1370VHyperkalaemic periodic paralysisMedium9 11757950

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.



CACNA1CNQHQYKVWYVVNSTYFEYLMFVLILLNTIC>L<AMQHYGQSCLFKIAMNILNMLFTGLFTVEM1266
CACNA1AQSFQYRMWQFVVSPPFEYTIMAMIALNTIV>L<MMKFYGASVAYENALRVFNIVFTSLFSLEC1613
CACNA1BQSFQYKTWTFVVSPPFEYFIMAMIALNTVV>L<MMKFYDAPYEYELMLKCLNIVFTSMFSMEC1519
CACNA1DNPYQYKFWYVVNSSPFEYMMFVLIMLNTLC>L<AMQHYEQSKMFNDAMDILNMVFTGVFTVEM1272
CACNA1EHTFQYRVWHFVVSPSFEYTIMAMIALNTVV>L<MMKYYSAPCTYELALKYLNIAFTMVFSLEC1525
CACNA1FNPHQYRVWATVNSAAFEYLMFLLILLNTVA>L<AMQHYEQTAPFNYAMDILNMVFTGLFTIEM1237
CACNA1GSRFRLLVHHLCTSHYLDLFITGVIGLNVVT>M<AMEHYQQPQILDEALKICNYIFTVIFVLES1658
CACNA1HSPTRRSIHSLCTSHYLDLFITFIICVNVIT>M<SMEHYNQPKSLDEALKYCNYVFTIVFVFEA1664
CACNA1ICHTRLLIHSMCTSHYLDIFITFIICLNVVT>M<SLEHYNQPTSLETALKYCNYMFTTVFVLEA1534
CACNA1SNPYQYQVWYIVTSSYFEYLMFALIMLNTIC>L<GMQHYNQSEQMNHISDILNVAFTIIFTLEM1165
SCN10ANKFQGFVFDIVTRQAFDITIMVLICLNMIT>M<MVETDDQSEEKTKILGKINQFFVAVFTGEC1523
SCN11ANKCQGLVFDIVTSQIFDIIIISLIILNMIS>M<MAESYNQPKAMKSILDHLNWVFVVIFTLEC1413
SCN1ANKFQGMVFDFVTRQVFDISIMILICLNMVT>M<MVETDDQSEYVTTILSRINLVFIVLFTGEC1588
SCN2ANKFQGMVFDFVTKQVFDISIMILICLNMVT>M<MVETDDQSQEMTNILYWINLVFIVLFTGEC1578
SCN3ANKFQGMVFDFVTRQVFDISIMILICLNMVT>M<MVETDDQGKYMTLVLSRINLVFIVLFTGEF1573
SCN4ANKIQGMVYDLVTKQAFDITIMILICLNMVT>M<MVETDNQSQLKVDILYNINMIFIIIFTGEC1400
SCN5ANKYQGFIFDIVTKQAFDVTIMFLICLNMVT>M<MVETDDQSPEKINILAKINLLFVAIFTGEC1575
SCN7ANKLQGFIFDVVTSQAFNVIVMVLICFQAIA>M<MIDTDVQSLQMSIALYWINSIFVMLYTMEC1298
SCN8ANKIQGIVFDFVTQQAFDIVIMMLICLNMVT>M<MVETDTQSKQMENILYWINLVFVIFFTCEC1569
SCN9ANKIQGCIFDLVTNQAFDISIMVLICLNMVT>M<MVEKEGQSQHMTEVLYWINVVFIILFTGEC1551
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1236 for CACNA1C.