No paralogue variants have been mapped to residue 1043 for RYR1.
RYR1 | PARRNPRLVPYRLLDEATKRSNRDSLCQAV>R<TLLGYGYNIEPPDQEP-SQVEN-QSRCDRV | 1071 |
RYR2 | KNRRNPRLVPYTLLDDRTKKSNKDSLREAV>R<TLLGYGYNLEAPDQDHAARAEVCSGTGERF | 1085 |
RYR3 | KNKRNPRLVPYALLDERTKKSNRDSLREAV>R<TFVGYGYNIEPSDQEL-ADSAVEKVSIDKI | 1071 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1043C | c.3127C>T | Other Myopathy | rs111272095 | SIFT: Polyphen: | |
Reports | Other Myopathy | Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943 | |||
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 | ||||
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.R1043H | c.3128G>A | Putative Benign | rs374776563 | SIFT: deleterious Polyphen: probably damaging |