No paralogue variants have been mapped to residue 4501 for RYR1.
RYR1 | P-ILKRKLGVDGVEEELPPEPEPEPEPELE>P<EKADAENGEKEEVPEPTPEPPKKQ------ | 4525 |
RYR2 | V-QEKFQEQ--KA---KEEEKEEKEETKSE>P<EKAEGEDGEKEEKAKEDKGKQKLR------ | 4463 |
RYR3 | TVQKKRKA---QA---AEMKAANEAEGKVE>S<EKADMEDGEKEDKDKEEEQAEYLWTEVTKK | 4372 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P4501L | c.13502C>T | Conflict | rs73933023 | SIFT: Polyphen: | |
Reports | Other Myopathy | Increasing the number of diagnostic mutations in malignant hyperthermia. Hum Mutat. 2009 30(4):590-8. 19191329 | |||
Other Myopathy | A map of human genome variation from population-scale sequencing. Nature. 2010 467(7319):1061-73. 20981092 | ||||
Other Myopathy | Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies. Mol Genet Metab. 2011 104(1-2):167-73. doi: 10.1016/j.ymgme.2011.07.001. 21795085 | ||||
Other Myopathy | An informatics approach to analyzing the incidentalome. Genet Med. 2013 15(1):36-44. doi: 10.1038/gim.2012.112. 22995991 |