Paralogue Annotation for CACNA1C residue 1230

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1230
Reference Amino Acid: L - Leucine
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to CACNA1C residue 1230

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AC1552YDravet syndromeMedium9 26438699

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.



CACNA1CYIPK--NQHQYKVWYVVNSTYFEYLMFVLI>L<LNTICLAMQHYGQSCLFKIAMNILNMLFTG1260
CACNA1AHMPQNKQSFQYRMWQFVVSPPFEYTIMAMI>A<LNTIVLMMKFYGASVAYENALRVFNIVFTS1607
CACNA1BYMPQNRQSFQYKTWTFVVSPPFEYFIMAMI>A<LNTVVLMMKFYDAPYEYELMLKCLNIVFTS1513
CACNA1DYIPK--NPYQYKFWYVVNSSPFEYMMFVLI>M<LNTLCLAMQHYEQSKMFNDAMDILNMVFTG1266
CACNA1EYMPQNRHTFQYRVWHFVVSPSFEYTIMAMI>A<LNTVVLMMKYYSAPCTYELALKYLNIAFTM1519
CACNA1FYIPK--NPHQYRVWATVNSAAFEYLMFLLI>L<LNTVALAMQHYEQTAPFNYAMDILNMVFTG1231
CACNA1GPYYSDYSRFRLLVHHLCTSHYLDLFITGVI>G<LNVVTMAMEHYQQPQILDEALKICNYIFTV1652
CACNA1HPYYADYSPTRRSIHSLCTSHYLDLFITFII>C<VNVITMSMEHYNQPKSLDEALKYCNYVFTI1658
CACNA1IPYYATYCHTRLLIHSMCTSHYLDIFITFII>C<LNVVTMSLEHYNQPTSLETALKYCNYMFTT1528
CACNA1SYIPK--NPYQYQVWYIVTSSYFEYLMFALI>M<LNTICLGMQHYNQSEQMNHISDILNVAFTI1159
SCN10APIPRPLNKFQGFVFDIVTRQAFDITIMVLI>C<LNMITMMVETDDQSEEKTKILGKINQFFVA1517
SCN11APIPRPLNKCQGLVFDIVTSQIFDIIIISLI>I<LNMISMMAESYNQPKAMKSILDHLNWVFVV1407
SCN1APIPRPGNKFQGMVFDFVTRQVFDISIMILI>C<LNMVTMMVETDDQSEYVTTILSRINLVFIV1582
SCN2APIPRPANKFQGMVFDFVTKQVFDISIMILI>C<LNMVTMMVETDDQSQEMTNILYWINLVFIV1572
SCN3APIPRPANKFQGMVFDFVTRQVFDISIMILI>C<LNMVTMMVETDDQGKYMTLVLSRINLVFIV1567
SCN4APIPRPQNKIQGMVYDLVTKQAFDITIMILI>C<LNMVTMMVETDNQSQLKVDILYNINMIFII1394
SCN5APIPRPLNKYQGFIFDIVTKQAFDVTIMFLI>C<LNMVTMMVETDDQSPEKINILAKINLLFVA1569
SCN7APVPRPLNKLQGFIFDVVTSQAFNVIVMVLI>C<FQAIAMMIDTDVQSLQMSIALYWINSIFVM1292
SCN8APIPRPLNKIQGIVFDFVTQQAFDIVIMMLI>C<LNMVTMMVETDTQSKQMENILYWINLVFVI1563
SCN9APIPRPGNKIQGCIFDLVTNQAFDISIMVLI>C<LNMVTMMVEKEGQSQHMTEVLYWINVVFII1545
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1230 for CACNA1C.