Paralogue Annotation for CACNA1C residue 977

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 977
Reference Amino Acid: V - Valine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 977

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1SV876EHypokalaemic periodic paralysisHigh9 19779499
SCN5AV1279ICardiomyopathy, dilatedHigh9 21596231, 23299917, 25637381
SCN2AV1282FSchizophreniaHigh9 26555645

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.



CACNA1CEIALKMTAYGAFLHKGSFCRNYFNILDLLV>V<SVSLISF----G----IQSSAINVVKILRV999
CACNA1AEMVIKMIDLGLVLHQGAYFRDLWNILDFIV>V<SGALVAFAFTGN----SKGKDINTIKSLRV1347
CACNA1BEMVIKMIDLGLLLHPGAYFRDLWNILDFIV>V<SGALVAFAFS-G----SKGKDINTIKSLRV1253
CACNA1DEILLKMTTFGAFLHKGAFCRNYFNLLDMLV>V<GVSLVSF----G----IQSSAISVVKILRV1005
CACNA1EEMVIKMIDQGLILQDGSYFRDLWNILDFVV>V<VGALVAFALANA-LGTNKGRDIKTIKSLRV1259
CACNA1FEILLKMTVFGAFLHRGSFCRSWFNMLDLLV>V<SVSLISF----G----IHSSAISVVKILRV970
CACNA1GEMTVKVVALGWCFGEQAYLRSSWNVLDGLL>V<LISVIDILVS-MVSD-SGTKILGMLRVLRL1382
CACNA1HEMMVKVVALGLLSGEHAYLQSSWNLLDGLL>V<LVSLVDIVVA-MASA-GGAKILGVLRVLRL1400
CACNA1IEMTLKVVSLGLYFGEQAYLRSSWNVLDGFL>V<FVSIIDIVVS-LASA-GGAKILGVLRVLRL1276
CACNA1SEIVLKMTTYGAFLHKGSFCRNYFNMLDLLV>V<AVSLISM----G----LESSAISVVKILRV898
SCN10AEMLLKWVAYGF----KKYFTNAWCWLDFLI>V<NISLISLTAK-I----LEYSEVAPIKALRT1251
SCN11AEMVLKWVAFGF----GKYFTSAWCCLDFII>V<IVSVTTLI---------N---LMELKSFRT1148
SCN1AEMLLKWVAYGY----QTYFTNAWCWLDFLI>V<DVSLVSLTAN-A----LGYSELGAIKSLRT1317
SCN2AEMLLKWVAYGF----QVYFTNAWCWLDFLI>V<DVSLVSLTAN-A----LGYSELGAIKSLRT1307
SCN3AEMLLKWVAYGF----QTYFTNAWCWLDFLI>V<DVSLVSLVAN-A----LGYSELGAIKSLRT1305
SCN4AEMLLKWVAYGF----KVYFTNAWCWLDFLI>V<DVSIISLVAN-W----LGYSELGPIKSLRT1130
SCN5AEMLLKWVAYGF----KKYFTNAWCWLDFLI>V<DVSLVSLVAN-T----LGFAEMGPIKSLRT1304
SCN7AEMLLKWMAYGF----KAYFSNGWYRLDFVV>V<IVFCLSLIGK-T----RE--E---LKPLIS1028
SCN8AEMLLKWTAYGF----VKFFTNAWCWLDFLI>V<AVSLVSLIAN-A----LGYSELGAIKSLRT1297
SCN9AEMLLKWIAYGY----KTYFTNAWCWLDFLI>V<DVSLVTLVAN-T----LGYSDLGPIKSLRT1280
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 977 for CACNA1C.