Paralogue Annotation for CACNA1C residue 979

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 979
Reference Amino Acid: V - Valine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 979

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AV1281FBrugada syndrome ?High9 21126620, 23810369

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.



CACNA1CALKMTAYGAFLHKGSFCRNYFNILDLLVVS>V<SLISF----G----IQSSAINVVKILRVLR1001
CACNA1AVIKMIDLGLVLHQGAYFRDLWNILDFIVVS>G<ALVAFAFTGN----SKGKDINTIKSLRVLR1349
CACNA1BVIKMIDLGLLLHPGAYFRDLWNILDFIVVS>G<ALVAFAFS-G----SKGKDINTIKSLRVLR1255
CACNA1DLLKMTTFGAFLHKGAFCRNYFNLLDMLVVG>V<SLVSF----G----IQSSAISVVKILRVLR1007
CACNA1EVIKMIDQGLILQDGSYFRDLWNILDFVVVV>G<ALVAFALANA-LGTNKGRDIKTIKSLRVLR1261
CACNA1FLLKMTVFGAFLHRGSFCRSWFNMLDLLVVS>V<SLISF----G----IHSSAISVVKILRVLR972
CACNA1GTVKVVALGWCFGEQAYLRSSWNVLDGLLVL>I<SVIDILVS-MVSD-SGTKILGMLRVLRLLR1384
CACNA1HMVKVVALGLLSGEHAYLQSSWNLLDGLLVL>V<SLVDIVVA-MASA-GGAKILGVLRVLRLLR1402
CACNA1ITLKVVSLGLYFGEQAYLRSSWNVLDGFLVF>V<SIIDIVVS-LASA-GGAKILGVLRVLRLLR1278
CACNA1SVLKMTTYGAFLHKGSFCRNYFNMLDLLVVA>V<SLISM----G----LESSAISVVKILRVLR900
SCN10ALLKWVAYGF----KKYFTNAWCWLDFLIVN>I<SLISLTAK-I----LEYSEVAPIKALRTLR1253
SCN11AVLKWVAFGF----GKYFTSAWCCLDFIIVI>V<SVTTLI---------N---LMELKSFRTLR1150
SCN1ALLKWVAYGY----QTYFTNAWCWLDFLIVD>V<SLVSLTAN-A----LGYSELGAIKSLRTLR1319
SCN2ALLKWVAYGF----QVYFTNAWCWLDFLIVD>V<SLVSLTAN-A----LGYSELGAIKSLRTLR1309
SCN3ALLKWVAYGF----QTYFTNAWCWLDFLIVD>V<SLVSLVAN-A----LGYSELGAIKSLRTLR1307
SCN4ALLKWVAYGF----KVYFTNAWCWLDFLIVD>V<SIISLVAN-W----LGYSELGPIKSLRTLR1132
SCN5ALLKWVAYGF----KKYFTNAWCWLDFLIVD>V<SLVSLVAN-T----LGFAEMGPIKSLRTLR1306
SCN7ALLKWMAYGF----KAYFSNGWYRLDFVVVI>V<FCLSLIGK-T----RE--E---LKPLISMK1030
SCN8ALLKWTAYGF----VKFFTNAWCWLDFLIVA>V<SLVSLIAN-A----LGYSELGAIKSLRTLR1299
SCN9ALLKWIAYGY----KTYFTNAWCWLDFLIVD>V<SLVTLVAN-T----LGYSDLGPIKSLRTLR1282
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 979 for CACNA1C.