Paralogue Annotation for CACNA1C residue 976

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 976
Reference Amino Acid: V - Valine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 976

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AI1278NLong QT syndromeMedium9 19841300
SCN10AI1225TBrugada syndromeMedium9 24998131, 25650408

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.



CACNA1CIEIALKMTAYGAFLHKGSFCRNYFNILDLL>V<VSVSLISF----G----IQSSAINVVKILR998
CACNA1AFEMVIKMIDLGLVLHQGAYFRDLWNILDFI>V<VSGALVAFAFTGN----SKGKDINTIKSLR1346
CACNA1BFEMVIKMIDLGLLLHPGAYFRDLWNILDFI>V<VSGALVAFAFS-G----SKGKDINTIKSLR1252
CACNA1DVEILLKMTTFGAFLHKGAFCRNYFNLLDML>V<VGVSLVSF----G----IQSSAISVVKILR1004
CACNA1EFEMVIKMIDQGLILQDGSYFRDLWNILDFV>V<VVGALVAFALANA-LGTNKGRDIKTIKSLR1258
CACNA1FVEILLKMTVFGAFLHRGSFCRSWFNMLDLL>V<VSVSLISF----G----IHSSAISVVKILR969
CACNA1GAEMTVKVVALGWCFGEQAYLRSSWNVLDGL>L<VLISVIDILVS-MVSD-SGTKILGMLRVLR1381
CACNA1HAEMMVKVVALGLLSGEHAYLQSSWNLLDGL>L<VLVSLVDIVVA-MASA-GGAKILGVLRVLR1399
CACNA1IGEMTLKVVSLGLYFGEQAYLRSSWNVLDGF>L<VFVSIIDIVVS-LASA-GGAKILGVLRVLR1275
CACNA1SVEIVLKMTTYGAFLHKGSFCRNYFNMLDLL>V<VAVSLISM----G----LESSAISVVKILR897
SCN10AFEMLLKWVAYGF----KKYFTNAWCWLDFL>I<VNISLISLTAK-I----LEYSEVAPIKALR1250
SCN11ALEMVLKWVAFGF----GKYFTSAWCCLDFI>I<VIVSVTTLI---------N---LMELKSFR1147
SCN1ALEMLLKWVAYGY----QTYFTNAWCWLDFL>I<VDVSLVSLTAN-A----LGYSELGAIKSLR1316
SCN2ALEMLLKWVAYGF----QVYFTNAWCWLDFL>I<VDVSLVSLTAN-A----LGYSELGAIKSLR1306
SCN3ALEMLLKWVAYGF----QTYFTNAWCWLDFL>I<VDVSLVSLVAN-A----LGYSELGAIKSLR1304
SCN4AMEMLLKWVAYGF----KVYFTNAWCWLDFL>I<VDVSIISLVAN-W----LGYSELGPIKSLR1129
SCN5ALEMLLKWVAYGF----KKYFTNAWCWLDFL>I<VDVSLVSLVAN-T----LGFAEMGPIKSLR1303
SCN7ALEMLLKWMAYGF----KAYFSNGWYRLDFV>V<VIVFCLSLIGK-T----RE--E---LKPLI1027
SCN8ALEMLLKWTAYGF----VKFFTNAWCWLDFL>I<VAVSLVSLIAN-A----LGYSELGAIKSLR1296
SCN9ALEMLLKWIAYGY----KTYFTNAWCWLDFL>I<VDVSLVTLVAN-T----LGYSDLGPIKSLR1279
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V976Ac.2927T>C Putative BenignSIFT:
Polyphen: