No paralogue variants have been mapped to residue 112 for RYR1.
RYR1 | -E-------SSQGGGHRTLLYGHAILLRHA>H<SRMYLSCLTTSRSMTDKLAFDVGLQEDATG | 142 |
RYR2 | VEKWKFMMKTAQGGGHRTLLYGHAILLRHS>Y<SGMYLCCLSTSRSSTDKLAFDVGLQEDTTG | 155 |
RYR3 | -G-------AAQGGGHRTLLYGHAVLLRHS>F<SGMYLTCLTTSRSQTDKLAFDVGLREHATG | 145 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H112Q | c.336C>G | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat. 2012 33(6):981-8. doi: 10.1002/humu.22056. 22473935 | |||
p.H112Y | c.334C>T | Putative Benign | SIFT: Polyphen: |