Paralogue Annotation for CACNA1C residue 1168

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1168
Reference Amino Acid: T - Threonine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1168

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AN1472SLong QT syndromeMedium9 19716085
SCN4AN1297KMyotonia, non-dystrophicMedium9 18203179
SCN1AN1485YMyoclonic epilepsy of infancyMedium9 23195492
SCN1AN1485DDravet syndromeMedium9 23708187
SCN8AN1466KEpileptic encephalopathy, infantileMedium9 24888894
SCN8AN1466TEpileptic encephalopathy, infantileMedium9 24888894

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.



CACNA1CYRVEISIFFIIYIIIIAFFMMNIFVGFVIV>T<FQEQGEQE----YKNCELDKNQR------Q1188
CACNA1AYRMEMSIFYVVYFVVFPFFFVNIFVALIII>T<FQEQGDKM----MEEYSLEKNER------A1533
CACNA1BYRMELSIFYVVYFVVFPFFFVNIFVALIII>T<FQEQGDKV----MSECSLEKNER------A1439
CACNA1DHRVEISIFFIIYIIIVAFFMMNIFVGFVIV>T<FQEQGEKE----YKNCELDKNQR------Q1194
CACNA1ENRMEMSIFYVVYFVVFPFFFVNIFVALIII>T<FQEQGDKM----MEECSLEKNER------A1445
CACNA1FYRVEISVFFIVYIIIIAFFMMNIFVGFVII>T<FRAQGEQE----YQNCELDKNQR------Q1159
CACNA1GHNPWMLLYFISFLLIVAFFVLNMFVGVVVE>N<FHKCRQHQEEEEARRREEKRLRRLEKKRRN1569
CACNA1HHNPWMLLYFISFLLIVSFFVLNMFVGVVVE>N<FHKCRQHQEAEEARRREEK----------R1577
CACNA1IHNPWMLLYFISFLLIVSFFVLNMFVGVVVE>N<FHKCRQHQEAEEARRREEK----------R1453
CACNA1SNRVEMAIFFIIYIILIAFFMMNIFVGFVIV>T<FQEQGETE----YKNCELDKNQR------Q1087
SCN10ADNVYMYLYFVIFIIFGGFFTLNLFVGVIID>N<FNQQKKKLGGQDIFMTEEQKKYY------N1444
SCN11ASNSLGYIYFVVFIIFGSFFTLNLFIGVIID>N<FNQQQKKLGGQDIFMTEEQKKYY------N1334
SCN1AESLYMYLYFVIFIIFGSFFTLNLFIGVIID>N<FNQQKKKFGGQDIFMTEEQKKYY------N1509
SCN2ADNLYMYLYFVIFIIFGSFFTLNLFIGVIID>N<FNQQKKKFGGQDIFMTEEQKKYY------N1499
SCN3AENLYMYLYFVIFIIFGSFFTLNLFIGVIID>N<FNQQKKKFGGQDIFMTEEQKKYY------N1494
SCN4AVNLYMYLYFVIFIIFGSFFTLNLFIGVIID>N<FNQQKKKLGGKDIFMTEEQKKYY------N1321
SCN5AYNLYMYIYFVIFIIFGSFFTLNLFIGVIID>N<FNQQKKKLGGQDIFMTEEQKKYY------N1496
SCN7AVNIYMYCYFINFIIFGVFLPLSMLITVIID>N<FNKHKIKLGGSNIFITVKQRKQY------R1219
SCN8ADNIYMYIYFVIFIIFGSFFTLNLFIGVIID>N<FNQQKKKFGGQDIFMTEEQKKYY------N1490
SCN9AYSLYMYIYFVVFIIFGSFFTLNLFIGVIID>N<FNQQKKKLGGQDIFMTEEQKKYY------N1472
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1168 for CACNA1C.