Paralogue Annotation for CACNA1C residue 496

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 496
Reference Amino Acid: R - Arginine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to CACNA1C residue 496

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AR689CLong QT syndromeMedium3 19716085
SCN5AR689HLong QT syndromeMedium3 16414944, 15851227, 20129283, 21321465, 22378279, 22490985, 23465283, 24055113, 25637381

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------ARL-------------------AH>R<-ISKSKFSRYWRRWNRFCRRKCRAAVKSNV525
CACNA1A-SP--FARA-------------------SI>K<-SAKLENSTFFHKKERRMRFYIRRMVKTQA488
CACNA1B-SP--FARA-------------------SL>K<-SGKTESSSYFRRKEKMFRFFIRRMVKAQS484
CACNA1D-GPSGCRRW-------------------GQ>A<-ISKSKLSRRWRRWNRFNRRRCRAAVKSVT544
CACNA1E-TP--LARA-------------------SI>K<-SAKVDGVSYFRHKERLLRISIRHMVKSQV477
CACNA1F-ALASCTRC-------------------LN>K<-IMKTRVCRRLRRANRVLRARCRRAVKSNA530
CACNA1GRDPH-SRRQ---R----------------->-<SLGPDAEPSSVLAFWRLICDTFRKIVDSKY744
CACNA1HWDP--TRPPRATDTPGPG---PGSPQRRAQ>Q<RAAPGE-PGWMGRLWVTFSGKLRRIVDSKY794
CACNA1IDGD--GARS---SEDGASSELG--KEEEEE>E<-QADGA-VWLCGDVWRETRAKLRGIVDSKY641
CACNA1S----------------------------LN>K<-I--IQFIRHWRQWNRIFRWKCHDIVKSKV433
SCN10A-QK--CPPC-------------------LT>S<-LSQKYLIWDCCPMWVKLKTILFGLVTDPF666
SCN11A-EP--CLPC-------------------GE>N<-LASKYLVWNCCPQWLCVKKVLRTVMTDPF578
SCN1A-QK--CPPC-------------------WY>K<-FSNIFLIWDCSPYWLKVKHVVNLVVMDPF769
SCN2A-QK--CPPC-------------------WY>K<-FANMCLIWDCCKPWLKVKHLVNLVVMDPF760
SCN3A-QK--CPPC-------------------WY>R<-FANVFLIWDCCDAWLKVKHLVNLIVMDPF761
SCN4A-QK--CPPW-------------------WY>K<-CAHKVLIWNCCAPWLKFKNIIHLIVMDPF579
SCN5A-HK--CPPC-------------------WN>R<-LAQRYLIWECCPLWMSIKQGVKLVVMDPF718
SCN7A-KI--CPLY-------------------WY>K<-FAKTFLIWNCSPCWLKLKEFVHRIIMAPF506
SCN8A-RK--CPPC-------------------WY>K<-FANTFLIWECHPYWIKLKEIVNLIVMDPF754
SCN9A-QK--CPPW-------------------WY>R<-FAHKFLIWNCSPYWIKFKKCIYFIVMDPF734
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R496Qc.1487G>A Putative BenignSIFT: tolerated
Polyphen: benign
p.R496Wc.1486C>T Putative BenignSIFT:
Polyphen: