Paralogue Annotation for RYR2 residue 2493

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2493
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2493

No paralogue variants have been mapped to residue 2493 for RYR2.



RYR2DHKAAMVLFLDRVYGIEVQDFLLHLLEVGF>L<PDLRAAASLDTAALSATDMALALNRYLCTA2523
RYR1DHKASMVLFLDRVYGIENQDFLLHVLDVGF>L<PDMRAAASLDTATFSTTEMALALNRYLCLA2557
RYR3DHKAPMVLFLDRVYGIKDQTFLLHLLEVGF>L<PDLRASASLDTVSLSTTEAALALNRYICSA2420
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L2493Vc.7477C>G UnknownSIFT:
Polyphen: probably damaging
p.Leu2493Valc.7477C>G UnknownSIFT:
Polyphen: