No paralogue variants have been mapped to residue 328 for RYR1.
RYR1 | VDASKAHTKATSFCFRI---SKEKLDVAPK>R<DVEGMGPPEIKYGESLCFVQHVASGLWLTY | 358 |
RYR2 | MDKEKADVKSTAFTFRS---SKEKLDVGVR>K<EVDGMGTSEIKYGDSVCYIQHVDTGLWLTY | 374 |
RYR3 | QDRAKSDTKSTAFSFRASKELKEKLDSSHK>R<DIEGMGVPEIKYGDSVCFVQHIASGLWVTY | 366 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R328W | c.982C>T | Other Myopathy | rs193922762 | SIFT: Polyphen: | |
Reports | Other 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.R328Q | c.983G>A | Putative Benign | SIFT: Polyphen: |