Paralogue Annotation for CACNA1C residue 524

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 524
Reference Amino Acid: N - Asparagine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to CACNA1C residue 524

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AP717LBrugada syndromeMedium8 20129283, 23414114, 24136861
SCN1AP768LMyoclonic epilepsy of infancyMedium8 19350499, 24168886

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.



CACNA1CHR-ISKSKFSRYWRRWNRFCRRKCRAAVKS>N<VFYWLVIFLVFLNTLTIASEHYNQPNWLTE554
CACNA1AIK-SAKLENSTFFHKKERRMRFYIRRMVKT>Q<AFYWTVLSLVALNTLCVAIVHYNQPEWLSD517
CACNA1BLK-SGKTESSSYFRRKEKMFRFFIRRMVKA>Q<SFYWVVLCVVALNTLCVAMVHYNQPRRLTT513
CACNA1DQA-ISKSKLSRRWRRWNRFNRRRCRAAVKS>V<TFYWLVIVLVFLNTLTISSEHYNQPDWLTQ573
CACNA1EIK-SAKVDGVSYFRHKERLLRISIRHMVKS>Q<VFYWIVLSLVALNTACVAIVHHNQPQWLTH506
CACNA1FNK-IMKTRVCRRLRRANRVLRARCRRAVKS>N<ACYWAVLLLVFLNTLTIASEHHGQPVWLTQ559
CACNA1G--SLGPDAEPSSVLAFWRLICDTFRKIVDS>K<YFGRGIMIAILVNTLSMGIEYHEQPEELTN773
CACNA1HQQRAAPGE-PGWMGRLWVTFSGKLRRIVDS>K<YFSRGIMMAILVNTLSMGVEYHEQPEELTN823
CACNA1IEE-QADGA-VWLCGDVWRETRAKLRGIVDS>K<YFNRGIMMAILVNTVSMGIEHHEQPEELTN670
CACNA1SNK-I--IQFIRHWRQWNRIFRWKCHDIVKS>K<VFYWLVILIVALNTLSIASEHHNQPLWLTR462
SCN10ATS-LSQKYLIWDCCPMWVKLKTILFGLVTD>P<FAELTITLCIVVNTIFMAMEHHGMSPTFEA695
SCN11AEN-LASKYLVWNCCPQWLCVKKVLRTVMTD>P<FTELAITICIIINTVFLAMEHHKMEASFEK607
SCN1AYK-FSNIFLIWDCSPYWLKVKHVVNLVVMD>P<FVDLAITICIVLNTLFMAMEHYPMTDHFNN798
SCN2AYK-FANMCLIWDCCKPWLKVKHLVNLVVMD>P<FVDLAITICIVLNTLFMAMEHYPMTEQFSS789
SCN3AYR-FANVFLIWDCCDAWLKVKHLVNLIVMD>P<FVDLAITICIVLNTLFMAMEHYPMTEQFSS790
SCN4AYK-CAHKVLIWNCCAPWLKFKNIIHLIVMD>P<FVDLGITICIVLNTLFMAMEHYPMTEHFDN608
SCN5ANR-LAQRYLIWECCPLWMSIKQGVKLVVMD>P<FTDLTITMCIVLNTLFMALEHYNMTSEFEE747
SCN7AYK-FAKTFLIWNCSPCWLKLKEFVHRIIMA>P<FTDLFLIICIILNVCFLTLEHYPMSKQTNT535
SCN8AYK-FANTFLIWECHPYWIKLKEIVNLIVMD>P<FVDLAITICIVLNTLFMAMEHHPMTPQFEH783
SCN9AYR-FAHKFLIWNCSPYWIKFKKCIYFIVMD>P<FVDLAITICIVLNTLFMAMEHHPMTEEFKN763
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 524 for CACNA1C.