No paralogue variants have been mapped to residue 4939 for RYR1.
RYR1 | EYELYRVVFDITFFFFVIVILLAIIQGLII>D<AFGELRDQQEQVKEDMETKCFICGIGSDYF | 4969 |
RYR2 | EYEIYRIIFDITFFFFVIVILLAIIQGLII>D<AFGELRDQQEQVKEDMETKCFICGIGNDYF | 4898 |
RYR3 | PYEMYRIVFDITFFFFVIVILLAIIQGLII>D<AFGELRDQQEQVREDMETKCFICGIGNDYF | 4801 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D4939E | c.14817C>A | Other Myopathy | rs193922895 | SIFT: Polyphen: | |
Reports | Other Myopathy | RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene. J Med Genet. 2004 41(3):e33. 14985404 | |||
Other Myopathy | Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. Anesth Analg. 2013 116(5):1078-86. doi: 10.1213/ANE.0b013e31828a71ff. 23558838 | ||||
p.D4939N | c.14815G>A | Putative Benign | SIFT: Polyphen: |