Paralogue Annotation for RYR1 residue 1058

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1058
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1058

No paralogue variants have been mapped to residue 1058 for RYR1.



RYR1EATKRSNRDSLCQAVRTLLGYGYNIEPPDQ>E<P-SQVEN-QSRCDRVRIFRAEKSYTVQSGR1086
RYR2DRTKKSNKDSLREAVRTLLGYGYNLEAPDQ>D<HAARAEVCSGTGERFRIFRAEKTYAVKAGR1100
RYR3ERTKKSNRDSLREAVRTFVGYGYNIEPSDQ>E<L-ADSAVEKVSIDKIRFFRVERSYAVRSGK1086
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E1058Kc.3172G>A Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease. Anesth Analg. 2010 111(1):185-90. 20142353