No paralogue variants have been mapped to residue 705 for RYR1.
RYR1 | TAQATHLRVGWALTEGYTPYPGAGEGWGGN>G<VGDDLYSYGFDGLHLWTGHVARPVTSPGQH | 735 |
RYR2 | TAEATHLRVGWASTEGYSPYPGGGEEWGGN>G<VGDDLFSYGFDGLHLWSGCIARTVSSPNQH | 747 |
RYR3 | TAEPTHLRVGWASSSGYAPYPGGGEGWGGN>G<VGDDLYSYGFDGLHLWSGRIPRAVASINQH | 734 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G705R | c.2113G>C | 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.G705R | c.2113G>A | Putative Benign | SIFT: deleterious Polyphen: probably damaging |