No paralogue variants have been mapped to residue 2321 for RYR1.
RYR1 | QEQDLEKVVSYLAGCGLQSCPMLVAKGYPD>I<GWNPCGGERYLDFLRFAVFVNGESVEENAN | 2351 |
RYR2 | REPDLEKVVRYLAGCGLQSCQMLVSKGYPD>I<GWNPVEGERYLDFLRFAVFCNGESVEENAN | 2318 |
RYR3 | EEPDLEKVVTYLAGCGLQSCPMLLAKGYPD>V<GWNPIEGERYLSFLRFAVFVNSESVEENAS | 2215 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I2321V | c.6961A>G | Other Myopathy | rs34390345 | 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 | Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. 24055113 | ||||
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 | ||||
p.I2321T | c.6962T>C | Putative Benign | rs370500540 | SIFT: deleterious Polyphen: probably damaging |