Paralogue Annotation for CACNA1C residue 515

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 515
Reference Amino Acid: R - Arginine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to CACNA1C residue 515

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1HG784SEpilepsy, childhood absenceMedium8 12891677

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.



CACNA1C--------AHR-ISKSKFSRYWRRWNRFCR>R<KCRAAVKSNVFYWLVIFLVFLNTLTIASEH545
CACNA1A--------SIK-SAKLENSTFFHKKERRMR>F<YIRRMVKTQAFYWTVLSLVALNTLCVAIVH508
CACNA1B--------SLK-SGKTESSSYFRRKEKMFR>F<FIRRMVKAQSFYWVVLCVVALNTLCVAMVH504
CACNA1D--------GQA-ISKSKLSRRWRRWNRFNR>R<RCRAAVKSVTFYWLVIVLVFLNTLTISSEH564
CACNA1E--------SIK-SAKVDGVSYFRHKERLLR>I<SIRHMVKSQVFYWIVLSLVALNTACVAIVH497
CACNA1F--------LNK-IMKTRVCRRLRRANRVLR>A<RCRRAVKSNACYWAVLLLVFLNTLTIASEH550
CACNA1G-----------SLGPDAEPSSVLAFWRLIC>D<TFRKIVDSKYFGRGIMIAILVNTLSMGIEY764
CACNA1H-PGSPQRRAQQRAAPGE-PGWMGRLWVTFS>G<KLRRIVDSKYFSRGIMMAILVNTLSMGVEY814
CACNA1ILG--KEEEEEE-QADGA-VWLCGDVWRETR>A<KLRGIVDSKYFNRGIMMAILVNTVSMGIEH661
CACNA1S--------LNK-I--IQFIRHWRQWNRIFR>W<KCHDIVKSKVFYWLVILIVALNTLSIASEH453
SCN10A--------LTS-LSQKYLIWDCCPMWVKLK>T<ILFGLVTDPFAELTITLCIVVNTIFMAMEH686
SCN11A--------GEN-LASKYLVWNCCPQWLCVK>K<VLRTVMTDPFTELAITICIIINTVFLAMEH598
SCN1A--------WYK-FSNIFLIWDCSPYWLKVK>H<VVNLVVMDPFVDLAITICIVLNTLFMAMEH789
SCN2A--------WYK-FANMCLIWDCCKPWLKVK>H<LVNLVVMDPFVDLAITICIVLNTLFMAMEH780
SCN3A--------WYR-FANVFLIWDCCDAWLKVK>H<LVNLIVMDPFVDLAITICIVLNTLFMAMEH781
SCN4A--------WYK-CAHKVLIWNCCAPWLKFK>N<IIHLIVMDPFVDLGITICIVLNTLFMAMEH599
SCN5A--------WNR-LAQRYLIWECCPLWMSIK>Q<GVKLVVMDPFTDLTITMCIVLNTLFMALEH738
SCN7A--------WYK-FAKTFLIWNCSPCWLKLK>E<FVHRIIMAPFTDLFLIICIILNVCFLTLEH526
SCN8A--------WYK-FANTFLIWECHPYWIKLK>E<IVNLIVMDPFVDLAITICIVLNTLFMAMEH774
SCN9A--------WYR-FAHKFLIWNCSPYWIKFK>K<CIYFIVMDPFVDLAITICIVLNTLFMAMEH754
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 515 for CACNA1C.