Paralogue Annotation for RYR1 residue 328

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 328
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 328

No paralogue variants have been mapped to residue 328 for RYR1.



RYR1VDASKAHTKATSFCFRI---SKEKLDVAPK>R<DVEGMGPPEIKYGESLCFVQHVASGLWLTY358
RYR2MDKEKADVKSTAFTFRS---SKEKLDVGVR>K<EVDGMGTSEIKYGDSVCYIQHVDTGLWLTY374
RYR3QDRAKSDTKSTAFSFRASKELKEKLDSSHK>R<DIEGMGVPEIKYGDSVCFVQHIASGLWVTY366
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R328Wc.982C>T Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Detection of a novel ryanodine receptor subtype 1 mutation (R328W) in a malignant hyperthermia family by sequencing of a leukocyte transcript. Anesthesiology. 2003 99(2):297-302. 12883402
p.R328Qc.983G>A Putative BenignSIFT:
Polyphen: