Paralogue Annotation for CACNA1C residue 1039

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1039
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1039

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AF1344LBrugada syndromeMedium9 20129283
SCN5AF1344SBrugada syndromeMedium9 16616735
SCN1AF1357LIntractable epilepsyMedium9 23195492

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.



CACNA1CINRAKGLKHVVQCVFVAIRTIGNIVIVTTL>L<QFMFACIGVQLFKGKLYTCSDSSKQTEAEC1069
CACNA1AIKRLPKLKAVFDCVVNSLKNVFNILIVYML>F<MFIFAVVAVQLFKGKFFHCTDESKEFEKDC1417
CACNA1BIKRLPKLKAVFDCVVNSLKNVLNILIVYML>F<MFIFAVIAVQLFKGKFFYCTDESKELERDC1323
CACNA1DINRAKGLKHVVQCVFVAIRTIGNIMIVTTL>L<QFMFACIGVQLFKGKFYRCTDEAKSNPEEC1075
CACNA1EIKRLPKLKAVFDCVVTSLKNVFNILIVYKL>F<MFIFAVIAVQLFKGKFFYCTDSSKDTEKEC1329
CACNA1FINRAKGLKHVVQCVFVAIRTIGNIMIVTTL>L<QFMFACIGVQLFKGKFYTCTDEAKHTPQEC1040
CACNA1GISRAQGLKLVVETLMSSLKPIGNIVVICCA>F<FIIFGILGVQLFKGKFFVCQGED-------1445
CACNA1HISRAPGLKLVVETLISSLRPIGNIVLICCA>F<FIIFGILGVQLFKGKFYYCEGPD-------1463
CACNA1IISRAPGLKLVVETLISSLKPIGNIVLICCA>F<FIIFGILGVQLFKGKFYHCLGVD-------1339
CACNA1SINRAKGLKHVVQCMFVAISTIGNIVLVTTL>L<QFMFACIGVQLFKGKFFRCTDLSKMTEEEC968
SCN10ALSRFEGMRVVVDALVGAIPSIMNVLLVCLI>F<WLIFSIMGVNLFAGKFWRCINYTDGEF-SL1320
SCN11ALSQFEGMKVVVNALIGAIPAILNVLLVCLI>F<WLVFCILGVYFFSGKFGKCINGTDSVI---1215
SCN1ALSRFEGMRVVVNALLGAIPSIMNVLLVCLI>F<WLIFSIMGVNLFAGKFYHCINTTTGDR---1384
SCN2ALSRFEGMRVVVNALLGAIPSIMNVLLVCLI>F<WLIFSIMGVNLFAGKFYHCINYTTGEM---1374
SCN3ALSRFEGMRVVVNALVGAIPSIMNVLLVCLI>F<WLIFSIMGVNLFAGKFYHCVNMTTGNM---1372
SCN4ALSRFEGMRVVVNALLGAIPSIMNVLLVCLI>F<WLIFSIMGVNLFAGKFYYCINTTTSER---1197
SCN5ALSRFEGMRVVVNALVGAIPSIMNVLLVCLI>F<WLIFSIMGVNLFAGKFGRCINQTEGDL-P-1372
SCN7ALSQFERMKVVVRALIKTTLPTLNVFLVCLM>I<WLIFSIMGVDLFAGRFYECIDPTSGER---1095
SCN8ALSRFEGMRVVVNALVGAIPSIMNVLLVCLI>F<WLIFSIMGVNLFAGKYHYCFNETSEIR---1364
SCN9ALSRFEGMRVVVNALIGAIPSIMNVLLVCLI>F<WLIFSIMGVNLFAGKFYECINTTDGSR---1347
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1039 for CACNA1C.