Paralogue Annotation for CACNA1C residue 1045

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1045
Reference Amino Acid: C - Cysteine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1045

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AI1350TBrugada syndromeMedium9 12845244
SCN1AI1363NDravet syndromeMedium9 24168886

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.



CACNA1CLKHVVQCVFVAIRTIGNIVIVTTLLQFMFA>C<IGVQLFKGKLYTCSDSSKQTEAECKGNYIT1075
CACNA1ALKAVFDCVVNSLKNVFNILIVYMLFMFIFA>V<VAVQLFKGKFFHCTDESKEFEKDCRGKYLL1423
CACNA1BLKAVFDCVVNSLKNVLNILIVYMLFMFIFA>V<IAVQLFKGKFFYCTDESKELERDCRGQYLD1329
CACNA1DLKHVVQCVFVAIRTIGNIMIVTTLLQFMFA>C<IGVQLFKGKFYRCTDEAKSNPEECRGLFIL1081
CACNA1ELKAVFDCVVTSLKNVFNILIVYKLFMFIFA>V<IAVQLFKGKFFYCTDSSKDTEKECIGNYVD1335
CACNA1FLKHVVQCVFVAIRTIGNIMIVTTLLQFMFA>C<IGVQLFKGKFYTCTDEAKHTPQECKGSFLV1046
CACNA1GLKLVVETLMSSLKPIGNIVVICCAFFIIFG>I<LGVQLFKGKFFVCQGED---------TRNI1449
CACNA1HLKLVVETLISSLRPIGNIVLICCAFFIIFG>I<LGVQLFKGKFYYCEGPD---------TRNI1467
CACNA1ILKLVVETLISSLKPIGNIVLICCAFFIIFG>I<LGVQLFKGKFYHCLGVD---------TRNI1343
CACNA1SLKHVVQCMFVAISTIGNIVLVTTLLQFMFA>C<IGVQLFKGKFFRCTDLSKMTEEECRGYYYV974
SCN10AMRVVVDALVGAIPSIMNVLLVCLIFWLIFS>I<MGVNLFAGKFWRCINYTDGEF-SLVPLSIV1326
SCN11AMKVVVNALIGAIPAILNVLLVCLIFWLVFC>I<LGVYFFSGKFGKCINGTDSVI----NYTII1220
SCN1AMRVVVNALLGAIPSIMNVLLVCLIFWLIFS>I<MGVNLFAGKFYHCINTTTGDR---FDIEDV1390
SCN2AMRVVVNALLGAIPSIMNVLLVCLIFWLIFS>I<MGVNLFAGKFYHCINYTTGEM---FDVSVV1380
SCN3AMRVVVNALVGAIPSIMNVLLVCLIFWLIFS>I<MGVNLFAGKFYHCVNMTTGNM---FDISDV1378
SCN4AMRVVVNALLGAIPSIMNVLLVCLIFWLIFS>I<MGVNLFAGKFYYCINTTTSER---FDISEV1203
SCN5AMRVVVNALVGAIPSIMNVLLVCLIFWLIFS>I<MGVNLFAGKFGRCINQTEGDL-P-LNYTIV1378
SCN7AMKVVVRALIKTTLPTLNVFLVCLMIWLIFS>I<MGVDLFAGRFYECIDPTSGER---FPSSEV1101
SCN8AMRVVVNALVGAIPSIMNVLLVCLIFWLIFS>I<MGVNLFAGKYHYCFNETSEIR---FEIEDV1370
SCN9AMRVVVNALIGAIPSIMNVLLVCLIFWLIFS>I<MGVNLFAGKFYECINTTDGSR---FPASQV1353
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1045 for CACNA1C.