Paralogue Annotation for CACNA1C residue 1173

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1173
Reference Amino Acid: G - Glycine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1173

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AK1477NLong QT syndromeMedium6 23558814

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.



CACNA1CSIFFIIYIIIIAFFMMNIFVGFVIVTFQEQ>G<EQE----YKNCELDKNQR------QCV---1190
CACNA1ASIFYVVYFVVFPFFFVNIFVALIIITFQEQ>G<DKM----MEEYSLEKNER------ACI---1535
CACNA1BSIFYVVYFVVFPFFFVNIFVALIIITFQEQ>G<DKV----MSECSLEKNER------ACI---1441
CACNA1DSIFFIIYIIIVAFFMMNIFVGFVIVTFQEQ>G<EKE----YKNCELDKNQR------QCV---1196
CACNA1ESIFYVVYFVVFPFFFVNIFVALIIITFQEQ>G<DKM----MEECSLEKNER------ACI---1447
CACNA1FSVFFIVYIIIIAFFMMNIFVGFVIITFRAQ>G<EQE----YQNCELDKNQR------QCV---1161
CACNA1GLLYFISFLLIVAFFVLNMFVGVVVENFHKC>R<QHQEEEEARRREEKRLRRLEKKRRNLML--1572
CACNA1HLLYFISFLLIVSFFVLNMFVGVVVENFHKC>R<QHQEAEEARRREEK----------RLRRLE1582
CACNA1ILLYFISFLLIVSFFVLNMFVGVVVENFHKC>R<QHQEAEEARRREEK----------RLRRLE1458
CACNA1SAIFFIIYIILIAFFMMNIFVGFVIVTFQEQ>G<ETE----YKNCELDKNQR------QCV---1089
SCN10AYLYFVIFIIFGGFFTLNLFVGVIIDNFNQQ>K<KKLGGQDIFMTEEQKKYY------NAM---1446
SCN11AYIYFVVFIIFGSFFTLNLFIGVIIDNFNQQ>Q<KKLGGQDIFMTEEQKKYY------NAM---1336
SCN1AYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQ>K<KKFGGQDIFMTEEQKKYY------NAM---1511
SCN2AYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQ>K<KKFGGQDIFMTEEQKKYY------NAM---1501
SCN3AYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQ>K<KKFGGQDIFMTEEQKKYY------NAM---1496
SCN4AYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQ>K<KKLGGKDIFMTEEQKKYY------NAM---1323
SCN5AYIYFVIFIIFGSFFTLNLFIGVIIDNFNQQ>K<KKLGGQDIFMTEEQKKYY------NAM---1498
SCN7AYCYFINFIIFGVFLPLSMLITVIIDNFNKH>K<IKLGGSNIFITVKQRKQY------RRL---1221
SCN8AYIYFVIFIIFGSFFTLNLFIGVIIDNFNQQ>K<KKFGGQDIFMTEEQKKYY------NAM---1492
SCN9AYIYFVVFIIFGSFFTLNLFIGVIIDNFNQQ>K<KKLGGQDIFMTEEQKKYY------NAM---1474
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1173 for CACNA1C.