Paralogue Annotation for CACNA1C residue 1041

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1041
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1041

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AL1346PBrugada syndromeMedium9 20129283
SCN5AL1346IBrugada syndromeMedium9 20129283

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.



CACNA1CRAKGLKHVVQCVFVAIRTIGNIVIVTTLLQ>F<MFACIGVQLFKGKLYTCSDSSKQTEAECKG1071
CACNA1ARLPKLKAVFDCVVNSLKNVFNILIVYMLFM>F<IFAVVAVQLFKGKFFHCTDESKEFEKDCRG1419
CACNA1BRLPKLKAVFDCVVNSLKNVLNILIVYMLFM>F<IFAVIAVQLFKGKFFYCTDESKELERDCRG1325
CACNA1DRAKGLKHVVQCVFVAIRTIGNIMIVTTLLQ>F<MFACIGVQLFKGKFYRCTDEAKSNPEECRG1077
CACNA1ERLPKLKAVFDCVVTSLKNVFNILIVYKLFM>F<IFAVIAVQLFKGKFFYCTDSSKDTEKECIG1331
CACNA1FRAKGLKHVVQCVFVAIRTIGNIMIVTTLLQ>F<MFACIGVQLFKGKFYTCTDEAKHTPQECKG1042
CACNA1GRAQGLKLVVETLMSSLKPIGNIVVICCAFF>I<IFGILGVQLFKGKFFVCQGED---------1445
CACNA1HRAPGLKLVVETLISSLRPIGNIVLICCAFF>I<IFGILGVQLFKGKFYYCEGPD---------1463
CACNA1IRAPGLKLVVETLISSLKPIGNIVLICCAFF>I<IFGILGVQLFKGKFYHCLGVD---------1339
CACNA1SRAKGLKHVVQCMFVAISTIGNIVLVTTLLQ>F<MFACIGVQLFKGKFFRCTDLSKMTEEECRG970
SCN10ARFEGMRVVVDALVGAIPSIMNVLLVCLIFW>L<IFSIMGVNLFAGKFWRCINYTDGEF-SLVP1322
SCN11AQFEGMKVVVNALIGAIPAILNVLLVCLIFW>L<VFCILGVYFFSGKFGKCINGTDSVI----N1216
SCN1ARFEGMRVVVNALLGAIPSIMNVLLVCLIFW>L<IFSIMGVNLFAGKFYHCINTTTGDR---FD1386
SCN2ARFEGMRVVVNALLGAIPSIMNVLLVCLIFW>L<IFSIMGVNLFAGKFYHCINYTTGEM---FD1376
SCN3ARFEGMRVVVNALVGAIPSIMNVLLVCLIFW>L<IFSIMGVNLFAGKFYHCVNMTTGNM---FD1374
SCN4ARFEGMRVVVNALLGAIPSIMNVLLVCLIFW>L<IFSIMGVNLFAGKFYYCINTTTSER---FD1199
SCN5ARFEGMRVVVNALVGAIPSIMNVLLVCLIFW>L<IFSIMGVNLFAGKFGRCINQTEGDL-P-LN1374
SCN7AQFERMKVVVRALIKTTLPTLNVFLVCLMIW>L<IFSIMGVDLFAGRFYECIDPTSGER---FP1097
SCN8ARFEGMRVVVNALVGAIPSIMNVLLVCLIFW>L<IFSIMGVNLFAGKYHYCFNETSEIR---FE1366
SCN9ARFEGMRVVVNALIGAIPSIMNVLLVCLIFW>L<IFSIMGVNLFAGKFYECINTTDGSR---FP1349
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1041 for CACNA1C.