Paralogue Annotation for CACNA1C residue 1182

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1182
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1182

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AE1503KMyoclonic epilepsy of infancyMedium4 19783390, 23195492
SCN1AE1503GDravet syndromeMedium3 23398550

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.



CACNA1CFMMNIFVGFVIVTFQEQGEQE----YKNCE>L<DKNQR------QCV---EYAL------KAR1197
CACNA1AFFVNIFVALIIITFQEQGDKM----MEEYS>L<EKNER------ACI---DFAI------SAK1542
CACNA1BFFVNIFVALIIITFQEQGDKV----MSECS>L<EKNER------ACI---DFAI------SAK1448
CACNA1DFMMNIFVGFVIVTFQEQGEKE----YKNCE>L<DKNQR------QCV---EYAL------KAR1203
CACNA1EFFVNIFVALIIITFQEQGDKM----MEECS>L<EKNER------ACI---DFAI------SAK1454
CACNA1FFMMNIFVGFVIITFRAQGEQE----YQNCE>L<DKNQR------QCV---EYAL------KAQ1168
CACNA1GFVLNMFVGVVVENFHKCRQHQEEEEARRRE>E<KRLRRLEKKRRNLML--DDVI-----ASGS1580
CACNA1HFVLNMFVGVVVENFHKCRQHQEAEEARRRE>E<K----------RLRRLERRRRSTFPSPEAQ1595
CACNA1IFVLNMFVGVVVENFHKCRQHQEAEEARRRE>E<K----------RLRRLEKKRR------KAQ1465
CACNA1SFMMNIFVGFVIVTFQEQGETE----YKNCE>L<DKNQR------QCV---QYAL------KAR1096
SCN10AFTLNLFVGVIIDNFNQQKKKLGGQDIFMTE>E<QKKYY------NAM---KK-L----G-SKK1453
SCN11AFTLNLFIGVIIDNFNQQQKKLGGQDIFMTE>E<QKKYY------NAM---KK-L----G-SKK1343
SCN1AFTLNLFIGVIIDNFNQQKKKFGGQDIFMTE>E<QKKYY------NAM---KK-L----G-SKK1518
SCN2AFTLNLFIGVIIDNFNQQKKKFGGQDIFMTE>E<QKKYY------NAM---KK-L----G-SKK1508
SCN3AFTLNLFIGVIIDNFNQQKKKFGGQDIFMTE>E<QKKYY------NAM---KK-L----G-SKK1503
SCN4AFTLNLFIGVIIDNFNQQKKKLGGKDIFMTE>E<QKKYY------NAM---KK-L----G-SKK1330
SCN5AFTLNLFIGVIIDNFNQQKKKLGGQDIFMTE>E<QKKYY------NAM---KK-L----G-SKK1505
SCN7ALPLSMLITVIIDNFNKHKIKLGGSNIFITV>K<QRKQY------RRL---KK-L----M-YED1228
SCN8AFTLNLFIGVIIDNFNQQKKKFGGQDIFMTE>E<QKKYY------NAM---KK-L----G-SKK1499
SCN9AFTLNLFIGVIIDNFNQQKKKLGGQDIFMTE>E<QKKYY------NAM---KK-L----G-SKK1481
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1182 for CACNA1C.