Paralogue Annotation for CACNA1C residue 1179

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1179
Reference Amino Acid: N - Asparagine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1179

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AM1487LLong QT syndromeMedium5 19716085
SCN1AM1500VHemiplegic migraine 3Medium5 26747084

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.



CACNA1CIAFFMMNIFVGFVIVTFQEQGEQE----YK>N<CELDKNQR------QCV---EYAL------1194
CACNA1AFPFFFVNIFVALIIITFQEQGDKM----ME>E<YSLEKNER------ACI---DFAI------1539
CACNA1BFPFFFVNIFVALIIITFQEQGDKV----MS>E<CSLEKNER------ACI---DFAI------1445
CACNA1DVAFFMMNIFVGFVIVTFQEQGEKE----YK>N<CELDKNQR------QCV---EYAL------1200
CACNA1EFPFFFVNIFVALIIITFQEQGDKM----ME>E<CSLEKNER------ACI---DFAI------1451
CACNA1FIAFFMMNIFVGFVIITFRAQGEQE----YQ>N<CELDKNQR------QCV---EYAL------1165
CACNA1GVAFFVLNMFVGVVVENFHKCRQHQEEEEAR>R<REEKRLRRLEKKRRNLML--DDVI-----A1577
CACNA1HVSFFVLNMFVGVVVENFHKCRQHQEAEEAR>R<REEK----------RLRRLERRRRSTFPSP1592
CACNA1IVSFFVLNMFVGVVVENFHKCRQHQEAEEAR>R<REEK----------RLRRLEKKRR------1462
CACNA1SIAFFMMNIFVGFVIVTFQEQGETE----YK>N<CELDKNQR------QCV---QYAL------1093
SCN10AGGFFTLNLFVGVIIDNFNQQKKKLGGQDIF>M<TEEQKKYY------NAM---KK-L----G-1450
SCN11AGSFFTLNLFIGVIIDNFNQQQKKLGGQDIF>M<TEEQKKYY------NAM---KK-L----G-1340
SCN1AGSFFTLNLFIGVIIDNFNQQKKKFGGQDIF>M<TEEQKKYY------NAM---KK-L----G-1515
SCN2AGSFFTLNLFIGVIIDNFNQQKKKFGGQDIF>M<TEEQKKYY------NAM---KK-L----G-1505
SCN3AGSFFTLNLFIGVIIDNFNQQKKKFGGQDIF>M<TEEQKKYY------NAM---KK-L----G-1500
SCN4AGSFFTLNLFIGVIIDNFNQQKKKLGGKDIF>M<TEEQKKYY------NAM---KK-L----G-1327
SCN5AGSFFTLNLFIGVIIDNFNQQKKKLGGQDIF>M<TEEQKKYY------NAM---KK-L----G-1502
SCN7AGVFLPLSMLITVIIDNFNKHKIKLGGSNIF>I<TVKQRKQY------RRL---KK-L----M-1225
SCN8AGSFFTLNLFIGVIIDNFNQQKKKFGGQDIF>M<TEEQKKYY------NAM---KK-L----G-1496
SCN9AGSFFTLNLFIGVIIDNFNQQKKKLGGQDIF>M<TEEQKKYY------NAM---KK-L----G-1478
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1179 for CACNA1C.