Paralogue Annotation for RYR1 residue 2510

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2510
Reference Amino Acid: Y - Tyrosine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2510

No paralogue variants have been mapped to residue 2510 for RYR1.



RYR1GKDGALVQPKMSASFVPDHKASMVLFLDRV>Y<GIENQDFLLHVLDVGFLPDMRAAASLDTAT2540
RYR2AKDGNVVEPDMSAGFCPDHKAAMVLFLDRV>Y<GIEVQDFLLHLLEVGFLPDLRAAASLDTAA2506
RYR3NKDGSVSEPDMAANFCPDHKAPMVLFLDRV>Y<GIKDQTFLLHLLEVGFLPDLRASASLDTVS2403
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Y2510Hc.7528T>C Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943
p.Y2510Cc.7529A>G Putative BenignSIFT:
Polyphen: