Paralogue Annotation for CACNA1C residue 969

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 969
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 969

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AW1271CBrugada syndromeMedium9 20129283, 24136861
SCN1AW1284SDravet syndromeMedium9 18930999

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.



CACNA1CVFTTIFTIEIALKMTAYGAFLHKGSFCRNY>F<NILDLLVVSVSLISF----G----IQSSAI991
CACNA1AVFTGVFTFEMVIKMIDLGLVLHQGAYFRDL>W<NILDFIVVSGALVAFAFTGN----SKGKDI1339
CACNA1BIFTGVFTFEMVIKMIDLGLLLHPGAYFRDL>W<NILDFIVVSGALVAFAFS-G----SKGKDI1245
CACNA1DAFTAIFTVEILLKMTTFGAFLHKGAFCRNY>F<NLLDMLVVGVSLVSF----G----IQSSAI997
CACNA1EVFTGVFTFEMVIKMIDQGLILQDGSYFRDL>W<NILDFVVVVGALVAFALANA-LGTNKGRDI1251
CACNA1FAFTSIFTVEILLKMTVFGAFLHRGSFCRSW>F<NMLDLLVVSVSLISF----G----IHSSAI962
CACNA1GIFTAVFLAEMTVKVVALGWCFGEQAYLRSS>W<NVLDGLLVLISVIDILVS-MVSD-SGTKIL1374
CACNA1HIFTAIFVAEMMVKVVALGLLSGEHAYLQSS>W<NLLDGLLVLVSLVDIVVA-MASA-GGAKIL1392
CACNA1IIFTAIFVGEMTLKVVSLGLYFGEQAYLRSS>W<NVLDGFLVFVSIIDIVVS-LASA-GGAKIL1268
CACNA1SGFTSVFTVEIVLKMTTYGAFLHKGSFCRNY>F<NMLDLLVVAVSLISM----G----LESSAI890
SCN10AVFTFIFVFEMLLKWVAYGF----KKYFTNA>W<CWLDFLIVNISLISLTAK-I----LEYSEV1243
SCN11AIFTHIFILEMVLKWVAFGF----GKYFTSA>W<CCLDFIIVIVSVTTLI---------N---L1140
SCN1AVFTYIFILEMLLKWVAYGY----QTYFTNA>W<CWLDFLIVDVSLVSLTAN-A----LGYSEL1309
SCN2AVFTYIFILEMLLKWVAYGF----QVYFTNA>W<CWLDFLIVDVSLVSLTAN-A----LGYSEL1299
SCN3AVFTYIFILEMLLKWVAYGF----QTYFTNA>W<CWLDFLIVDVSLVSLVAN-A----LGYSEL1297
SCN4AVFTYIFIMEMLLKWVAYGF----KVYFTNA>W<CWLDFLIVDVSIISLVAN-W----LGYSEL1122
SCN5AMFTYVFVLEMLLKWVAYGF----KKYFTNA>W<CWLDFLIVDVSLVSLVAN-T----LGFAEM1296
SCN7AIFTYIFILEMLLKWMAYGF----KAYFSNG>W<YRLDFVVVIVFCLSLIGK-T----RE--E-1022
SCN8AVFTYIFILEMLLKWTAYGF----VKFFTNA>W<CWLDFLIVAVSLVSLIAN-A----LGYSEL1289
SCN9AIFTYIFILEMLLKWIAYGY----KTYFTNA>W<CWLDFLIVDVSLVTLVAN-T----LGYSDL1272
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 969 for CACNA1C.