Paralogue Annotation for CACNA1C residue 1180

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1180
Reference Amino Acid: C - Cysteine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1180

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AT1488RLong QT syndromeMedium5 19716085
SCN4AT1313AParamyotonia congenitaMedium5 14617673
SCN9AT1464IParoxysmal extreme pain disorderMedium5 17145499
SCN4AT1313MHyperkalaemic periodic paralysisMedium5

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.



CACNA1CAFFMMNIFVGFVIVTFQEQGEQE----YKN>C<ELDKNQR------QCV---EYAL------K1195
CACNA1APFFFVNIFVALIIITFQEQGDKM----MEE>Y<SLEKNER------ACI---DFAI------S1540
CACNA1BPFFFVNIFVALIIITFQEQGDKV----MSE>C<SLEKNER------ACI---DFAI------S1446
CACNA1DAFFMMNIFVGFVIVTFQEQGEKE----YKN>C<ELDKNQR------QCV---EYAL------K1201
CACNA1EPFFFVNIFVALIIITFQEQGDKM----MEE>C<SLEKNER------ACI---DFAI------S1452
CACNA1FAFFMMNIFVGFVIITFRAQGEQE----YQN>C<ELDKNQR------QCV---EYAL------K1166
CACNA1GAFFVLNMFVGVVVENFHKCRQHQEEEEARR>R<EEKRLRRLEKKRRNLML--DDVI-----AS1578
CACNA1HSFFVLNMFVGVVVENFHKCRQHQEAEEARR>R<EEK----------RLRRLERRRRSTFPSPE1593
CACNA1ISFFVLNMFVGVVVENFHKCRQHQEAEEARR>R<EEK----------RLRRLEKKRR------K1463
CACNA1SAFFMMNIFVGFVIVTFQ