Paralogue Annotation for RYR1 residue 2593

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2593
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2593

No paralogue variants have been mapped to residue 2593 for RYR1.



RYR1TKCAPLFAGTEHRAIMVDSMLHTVYRLSRG>R<SLTKAQRDVIEDCLMSLCRYIRPSMLQHLL2623
RYR2TRCAPLFAGTEHHASLIDSLLHTVYRLSKG>C<SLTKAQRDSIEVCLLSICGQLRPSMMQHLL2589
RYR3TRCAPLFAGTEHCTSLIDSTLQTIYRLSKG>R<SLTKAQRDTIEECLLAICNHLRPSMLQQLL2486
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R2593Gc.7777C>G Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families. Clin Genet. 2011 79(5):438-47. doi: 10.1111/j.1399-0004.2010.01493. 20681998
p.R2593Cc.7777C>T Putative BenignSIFT:
Polyphen:
p.R2593Hc.7778G>A Putative BenignSIFT:
Polyphen: