No paralogue variants have been mapped to residue 109 for RYR1.
RYR1 | V---E-------SSQGGGHRTLLYGHAILL>R<HAHSRMYLSCLTTSRSMTDKLAFDVGLQED | 139 |
RYR2 | QVDVEKWKFMMKTAQGGGHRTLLYGHAILL>R<HSYSGMYLCCLSTSRSSTDKLAFDVGLQED | 152 |
RYR3 | E---G-------AAQGGGHRTLLYGHAVLL>R<HSFSGMYLTCLTTSRSQTDKLAFDVGLREH | 142 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R109W | c.325C>T | Other Myopathy | rs118192173 | SIFT: Polyphen: | |
Reports | Other Myopathy | Characterization of recessive RYR1 mutations in core myopathies. Hum Mol Genet. 2006 15(18):2791-803. 16940308 | |||
Other Myopathy | RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling. Hum Mutat. 2013 34(7):986-96. doi: 10.1002/humu.22326. 23553787 | ||||
Unknown | Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. Neurology. 2005 65(12):1930-5. 16380615 | ||||
p.R109Q | c.326G>A | Putative Benign | SIFT: Polyphen: |