Paralogue Annotation for CACNA1C residue 1194

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1194
Reference Amino Acid: L - Leucine
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to CACNA1C residue 1194

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AL1501VLong QT syndromeMedium3 10973849, 24136861, 24573164
SCN1AL1514SDravet syndromeMedium3 20522430

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.



CACNA1C----YKNCELDKNQR------QCV---EYA>L<------KARP-------LRRYIPK--NQHQ1209
CACNA1A----MEEYSLEKNER------ACI---DFA>I<------SAKP-------LTRHMPQNKQSFQ1556
CACNA1B----MSECSLEKNER------ACI---DFA>I<------SAKP-------LTRYMPQNRQSFQ1462
CACNA1D----YKNCELDKNQR------QCV---EYA>L<------KARP-------LRRYIPK--NPYQ1215
CACNA1E----MEECSLEKNER------ACI---DFA>I<------SAKP-------LTRYMPQNRHTFQ1468
CACNA1F----YQNCELDKNQR------QCV---EYA>L<------KAQP-------LRRYIPK--NPHQ1180
CACNA1GEEEEARRREEKRLRRLEKKRRNLML--DDV>I<-----ASGSSASAASEAQCKPYYSDYSRFR1601
CACNA1HEAEEARRREEK----------RLRRLERRR>R<STFPSPEAQ---------RRPYYADYSPTR1607
CACNA1IEAEEARRREEK----------RLRRLEKKR>R<------KAQ---------RLPYYATYCHTR1477
CACNA1S----YKNCELDKNQR------QCV---QYA>L<------KARP-------LRCYIPK--NPYQ1108
SCN10AGGQDIFMTEEQKKYY------NAM---KK->L<----G-SKKP--------QKPIPRPLNKFQ1466
SCN11AGGQDIFMTEEQKKYY------NAM---KK->L<----G-SKKP--------QKPIPRPLNKCQ1356
SCN1AGGQDIFMTEEQKKYY------NAM---KK->L<----G-SKKP--------QKPIPRPGNKFQ1531
SCN2AGGQDIFMTEEQKKYY------NAM---KK->L<----G-SKKP--------QKPIPRPANKFQ1521
SCN3AGGQDIFMTEEQKKYY------NAM---KK->L<----G-SKKP--------QKPIPRPANKFQ1516
SCN4AGGKDIFMTEEQKKYY------NAM---KK->L<----G-SKKP--------QKPIPRPQNKIQ1343
SCN5AGGQDIFMTEEQKKYY------NAM---KK->L<----G-SKKP--------QKPIPRPLNKYQ1518
SCN7AGGSNIFITVKQRKQY------RRL---KK->L<----M-YEDS--------QRPVPRPLNKLQ1241
SCN8AGGQDIFMTEEQKKYY------NAM---KK->L<----G-SKKP--------QKPIPRPLNKIQ1512
SCN9AGGQDIFMTEEQKKYY------NAM---KK->L<----G-SKKP--------QKPIPRPGNKIQ1494
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1194 for CACNA1C.