Paralogue Annotation for CACNA1C residue 1172

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1172
Reference Amino Acid: Q - Glutamine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1172

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AQ1489HHemiplegic migraine 2High7 19332696
SCN1AQ1489KHemiplegic migraineHigh7 16054936, 18621678, 18632931, 23398611
SCN5AQ1476XBrugada syndromeHigh7 20129283, 23612926, 25525159
SCN5AQ1476RLong QT syndromeHigh7 24098284
SCN2AQ1479PEpileptic encephalopathy, early infantileHigh7 26993267

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.



CACNA1CISIFFIIYIIIIAFFMMNIFVGFVIVTFQE>Q<GEQE----YKNCELDKNQR------QCV--1190
CACNA1AMSIFYVVYFVVFPFFFVNIFVALIIITFQE>Q<GDKM----MEEYSLEKNER------ACI--1535
CACNA1BLSIFYVVYFVVFPFFFVNIFVALIIITFQE>Q<GDKV----MSECSLEKNER------ACI--1441
CACNA1DISIFFIIYIIIVAFFMMNIFVGFVIVTFQE>Q<GEKE----YKNCELDKNQR------QCV--1196
CACNA1EMSIFYVVYFVVFPFFFVNIFVALIIITFQE>Q<GDKM----MEECSLEKNER------ACI--1447
CACNA1FISVFFIVYIIIIAFFMMNIFVGFVIITFRA>Q<GEQE----YQNCELDKNQR------QCV--1161
CACNA1GMLLYFISFLLIVAFFVLNMFVGVVVENFHK>C<RQHQEEEEARRREEKRLRRLEKKRRNLML-1572
CACNA1HMLLYFISFLLIVSFFVLNMFVGVVVENFHK>C<RQHQEAEEARRREEK----------RLRRL1581
CACNA1IMLLYFISFLLIVSFFVLNMFVGVVVENFHK>C<RQHQEAEEARRREEK----------RLRRL1457
CACNA1SMAIFFIIYIILIAFFMMNIFVGFVIVTFQE>Q<GETE----YKNCELDKNQR------QCV--1089
SCN10AMYLYFVIFIIFGGFFTLNLFVGVIIDNFNQ>Q<KKKLGGQDIFMTEEQKKYY------NAM--1446
SCN11AGYIYFVVFIIFGSFFTLNLFIGVIIDNFNQ>Q<QKKLGGQDIFMTEEQKKYY------NAM--1336
SCN1AMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQ>Q<KKKFGGQDIFMTEEQKKYY------NAM--1511
SCN2AMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQ>Q<KKKFGGQDIFMTEEQKKYY------NAM--1501
SCN3AMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQ>Q<KKKFGGQDIFMTEEQKKYY------NAM--1496
SCN4AMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQ>Q<KKKLGGKDIFMTEEQKKYY------NAM--1323
SCN5AMYIYFVIFIIFGSFFTLNLFIGVIIDNFNQ>Q<KKKLGGQDIFMTEEQKKYY------NAM--1498
SCN7AMYCYFINFIIFGVFLPLSMLITVIIDNFNK>H<KIKLGGSNIFITVKQRKQY------RRL--1221
SCN8AMYIYFVIFIIFGSFFTLNLFIGVIIDNFNQ>Q<KKKFGGQDIFMTEEQKKYY------NAM--1492
SCN9AMYIYFVVFIIFGSFFTLNLFIGVIIDNFNQ>Q<KKKLGGQDIFMTEEQKKYY------NAM--1474
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1172 for CACNA1C.