No paralogue variants have been mapped to residue 485 for RYR1.
RYR1 | SEDLQHEEKQSKLRSLRNRQSLFQEEGMLS>M<VLNCIDRLNVYTTAAHFAEFAGEEAAESWK | 515 |
RYR2 | DEHLEHEDKQNRLRALKNRQNLFQEEGMIN>L<VLECIDRLHVYSSAAHFADVAGREAGESWK | 527 |
RYR3 | EEEMRHEDKQNKLRSLKNRQNLFKEEGMLA>L<VLNCIDRLNVYNSVAHFAGIAREESGMAWK | 514 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M485V | c.1453A>G | Other Myopathy | rs147723844 | SIFT: Polyphen: | |
Reports | Other Myopathy | RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling. Hum Mutat. 2013 34(7):986-96. doi: 10.1002/humu.22326. 23553787 | |||
Other Myopathy | Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology. 2013 119(5):1043-53. doi: 10.1097/ALN.0b013e3182a8a8e7. 24195946 | ||||
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 | ||||
Other Myopathy | Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594 |