No paralogue variants have been mapped to residue 4502 for RYR1.
RYR1 | -ILKRKLGVDGVEEELPPEPEPEPEPELEP>E<KADAENGEKEEVPEPTPEPPKKQ------- | 4525 |
RYR2 | -QEKFQEQ--KA---KEEEKEEKEETKSEP>E<KAEGEDGEKEEKAKEDKGKQKLR------- | 4463 |
RYR3 | VQKKRKA---QA---AEMKAANEAEGKVES>E<KADMEDGEKEDKDKEEEQAEYLWTEVTKKK | 4373 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4502G | c.13505A>G | Other Myopathy | rs139647387 | SIFT: Polyphen: | |
Reports | Other Myopathy | RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol. 2010 68(5):717-26. 20839240 | |||
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 |