No paralogue variants have been mapped to residue 4906 for RYR1.
RYR1 | KCDDMMTCYLFHMYVGVRAGGGIGDEIEDP>A<GDEYELYRVVFDITFFFFVIVILLAIIQGL | 4936 |
RYR2 | KCDDMLTCYMFHMYVGVRAGGGIGDEIEDP>A<GDEYEIYRIIFDITFFFFVIVILLAIIQGL | 4865 |
RYR3 | KCDDMMTCYLFHMYVGVRAGGGIGDEIEDP>A<GDPYEMYRIVFDITFFFFVIVILLAIIQGL | 4768 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A4906V | c.14717C>T | Other Myopathy | rs118192153 | SIFT: Polyphen: | |
Reports | Other Myopathy | Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis. Hum Mol Genet. 2001 10(25):2879-87. 11741831 | |||
Other Myopathy | The pore region of the skeletal muscle ryanodine receptor is a primary locus for excitation-contraction uncoupling in central core disease. J Gen Physiol. 2003 121(4):277-86. 12642598 | ||||
Unknown | Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146 | ||||
Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||
p.A4906G | c.14717C>G | Putative Benign | rs118192153 | SIFT: tolerated Polyphen: |