Paralogue Annotation for CACNA1C residue 1203

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1203
Reference Amino Acid: I - Isoleucine
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to CACNA1C residue 1203

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AI1523TDravet syndromeHigh5 21719429

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.



CACNA1CCV---EYAL------KARP-------LRRY>I<PK--NQHQYKVWYVVNSTYFEYLMFVLILL1231
CACNA1ACI---DFAI------SAKP-------LTRH>M<PQNKQSFQYRMWQFVVSPPFEYTIMAMIAL1578
CACNA1BCI---DFAI------SAKP-------LTRY>M<PQNRQSFQYKTWTFVVSPPFEYFIMAMIAL1484
CACNA1DCV---EYAL------KARP-------LRRY>I<PK--NPYQYKFWYVVNSSPFEYMMFVLIML1237
CACNA1ECI---DFAI------SAKP-------LTRY>M<PQNRHTFQYRVWHFVVSPSFEYTIMAMIAL1490
CACNA1FCV---EYAL------KAQP-------LRRY>I<PK--NPHQYRVWATVNSAAFEYLMFLLILL1202
CACNA1GLML--DDVI-----ASGSSASAASEAQCKP>Y<YSDYSRFRLLVHHLCTSHYLDLFITGVIGL1623
CACNA1HLRRLERRRRSTFPSPEAQ---------RRP>Y<YADYSPTRRSIHSLCTSHYLDLFITFIICV1629
CACNA1ILRRLEKKRR------KAQ---------RLP>Y<YATYCHTRLLIHSMCTSHYLDIFITFIICL1499
CACNA1SCV---QYAL------KARP-------LRCY>I<PK--NPYQYQVWYIVTSSYFEYLMFALIML1130
SCN10AAM---KK-L----G-SKKP--------QKP>I<PRPLNKFQGFVFDIVTRQAFDITIMVLICL1488
SCN11AAM---KK-L----G-SKKP--------QKP>I<PRPLNKCQGLVFDIVTSQIFDIIIISLIIL1378
SCN1AAM---KK-L----G-SKKP--------QKP>I<PRPGNKFQGMVFDFVTRQVFDISIMILICL1553
SCN2AAM---KK-L----G-SKKP--------QKP>I<PRPANKFQGMVFDFVTKQVFDISIMILICL1543
SCN3AAM---KK-L----G-SKKP--------QKP>I<PRPANKFQGMVFDFVTRQVFDISIMILICL1538
SCN4AAM---KK-L----G-SKKP--------QKP>I<PRPQNKIQGMVYDLVTKQAFDITIMILICL1365
SCN5AAM---KK-L----G-SKKP--------QKP>I<PRPLNKYQGFIFDIVTKQAFDVTIMFLICL1540
SCN7ARL---KK-L----M-YEDS--------QRP>V<PRPLNKLQGFIFDVVTSQAFNVIVMVLICF1263
SCN8AAM---KK-L----G-SKKP--------QKP>I<PRPLNKIQGIVFDFVTQQAFDIVIMMLICL1534
SCN9AAM---KK-L----G-SKKP--------QKP>I<PRPGNKIQGCIFDLVTNQAFDISIMVLICL1516
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1203 for CACNA1C.