Paralogue Annotation for RYR2 residue 2486

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2486
Reference Amino Acid: H - Histidine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2486

No paralogue variants have been mapped to residue 2486 for RYR2.



RYR2MSAGFCPDHKAAMVLFLDRVYGIEVQDFLL>H<LLEVGFLPDLRAAASLDTAALSATDMALAL2516
RYR1MSASFVPDHKASMVLFLDRVYGIENQDFLL>H<VLDVGFLPDMRAAASLDTATFSTTEMALAL2550
RYR3MAANFCPDHKAPMVLFLDRVYGIKDQTFLL>H<LLEVGFLPDLRASASLDTVSLSTTEAALAL2413
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.H2486Qc.7458T>G Putative BenignSIFT: tolerated
Polyphen: probably damaging