Paralogue Annotation for CACNA1C residue 1174

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1174
Reference Amino Acid: E - Glutamate
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1174

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1FE1145KNight blindness, congenital stationary, incompleteHigh5 19578023

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.



CACNA1CIFFIIYIIIIAFFMMNIFVGFVIVTFQEQG>E<QE----YKNCELDKNQR------QCV---E1191
CACNA1AIFYVVYFVVFPFFFVNIFVALIIITFQEQG>D<KM----MEEYSLEKNER------ACI---D1536
CACNA1BIFYVVYFVVFPFFFVNIFVALIIITFQEQG>D<KV----MSECSLEKNER------ACI---D1442
CACNA1DIFFIIYIIIVAFFMMNIFVGFVIVTFQEQG>E<KE----YKNCELDKNQR------QCV---E1197
CACNA1EIFYVVYFVVFPFFFVNIFVALIIITFQEQG>D<KM----MEECSLEKNER------ACI---D1448
CACNA1FVFFIVYIIIIAFFMMNIFVGFVIITFRAQG>E<QE----YQNCELDKNQR------QCV---E1162
CACNA1GLYFISFLLIVAFFVLNMFVGVVVENFHKCR>Q<HQEEEEARRREEKRLRRLEKKRRNLML--D1573
CACNA1HLYFISFLLIVSFFVLNMFVGVVVENFHKCR>Q<HQEAEEARRREEK----------RLRRLER1583
CACNA1ILYFISFLLIVSFFVLNMFVGVVVENFHKCR>Q<HQEAEEARRREEK----------RLRRLEK1459
CACNA1SIFFIIYIILIAFFMMNIFVGFVIVTFQEQG>E<TE----YKNCELDKNQR------QCV---Q1090
SCN10ALYFVIFIIFGGFFTLNLFVGVIIDNFNQQK>K<KLGGQDIFMTEEQKKYY------NAM---K1447
SCN11AIYFVVFIIFGSFFTLNLFIGVIIDNFNQQQ>K<KLGGQDIFMTEEQKKYY------NAM---K1337
SCN1ALYFVIFIIFGSFFTLNLFIGVIIDNFNQQK>K<KFGGQDIFMTEEQKKYY------NAM---K1512
SCN2ALYFVIFIIFGSFFTLNLFIGVIIDNFNQQK>K<KFGGQDIFMTEEQKKYY------NAM---K1502
SCN3ALYFVIFIIFGSFFTLNLFIGVIIDNFNQQK>K<KFGGQDIFMTEEQKKYY------NAM---K1497
SCN4ALYFVIFIIFGSFFTLNLFIGVIIDNFNQQK>K<KLGGKDIFMTEEQKKYY------NAM---K1324
SCN5AIYFVIFIIFGSFFTLNLFIGVIIDNFNQQK>K<KLGGQDIFMTEEQKKYY------NAM---K1499
SCN7ACYFINFIIFGVFLPLSMLITVIIDNFNKHK>I<KLGGSNIFITVKQRKQY------RRL---K1222
SCN8AIYFVIFIIFGSFFTLNLFIGVIIDNFNQQK>K<KFGGQDIFMTEEQKKYY------NAM---K1493
SCN9AIYFVVFIIFGSFFTLNLFIGVIIDNFNQQK>K<KLGGQDIFMTEEQKKYY------NAM---K1475
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1174 for CACNA1C.