Paralogue Annotation for CACNA1C residue 1193

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1193
Reference Amino Acid: A - Alanine
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to CACNA1C residue 1193

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AG1502SBrugada syndromeMedium4 12106943, 24573164
CACNA1FA1164DNight blindness, congenital stationary, incompleteMedium3 25307992

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.



CACNA1CE----YKNCELDKNQR------QCV---EY>A<L------KARP-------LRRYIPK--NQH1208
CACNA1AM----MEEYSLEKNER------ACI---DF>A<I------SAKP-------LTRHMPQNKQSF1555
CACNA1BV----MSECSLEKNER------ACI---DF>A<I------SAKP-------LTRYMPQNRQSF1461
CACNA1DE----YKNCELDKNQR------QCV---EY>A<L------KARP-------LRRYIPK--NPY1214
CACNA1EM----MEECSLEKNER------ACI---DF>A<I------SAKP-------LTRYMPQNRHTF1467
CACNA1FE----YQNCELDKNQR------QCV---EY>A<L------KAQP-------LRRYIPK--NPH1179
CACNA1GQEEEEARRREEKRLRRLEKKRRNLML--DD>V<I-----ASGSSASAASEAQCKPYYSDYSRF1600
CACNA1HQEAEEARRREEK----------RLRRLERR>R<RSTFPSPEAQ---------RRPYYADYSPT1606
CACNA1IQEAEEARRREEK----------RLRRLEKK>R<R------KAQ---------RLPYYATYCHT1476
CACNA1SE----YKNCELDKNQR------QCV---QY>A<L------KARP-------LRCYIPK--NPY1107
SCN10ALGGQDIFMTEEQKKYY------NAM---KK>-<L----G-SKKP--------QKPIPRPLNKF1465
SCN11ALGGQDIFMTEEQKKYY------NAM---KK>-<L----G-SKKP--------QKPIPRPLNKC1355
SCN1AFGGQDIFMTEEQKKYY------NAM---KK>-<L----G-SKKP--------QKPIPRPGNKF1530
SCN2AFGGQDIFMTEEQKKYY------NAM---KK>-<L----G-SKKP--------QKPIPRPANKF1520
SCN3AFGGQDIFMTEEQKKYY------NAM---KK>-<L----G-SKKP--------QKPIPRPANKF1515
SCN4ALGGKDIFMTEEQKKYY------NAM---KK>-<L----G-SKKP--------QKPIPRPQNKI1342
SCN5ALGGQDIFMTEEQKKYY------NAM---KK><L----G-SKKP--------QKPIPRPLNKY1517
SCN7ALGGSNIFITVKQRKQY------RRL---KK>-<L----M-YEDS--------QRPVPRPLNKL1240
SCN8AFGGQDIFMTEEQKKYY------NAM---KK>-<L----G-SKKP--------QKPIPRPLNKI1511
SCN9ALGGQDIFMTEEQKKYY------NAM---KK>-<L----G-SKKP--------QKPIPRPGNKI1493
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1193 for CACNA1C.