No paralogue variants have been mapped to residue 3840 for RYR1.
RYR1 | EVQQKMLDYLKDKKEVGFFQSIQALMQTCS>V<LDLNAFERQNKAEGLGMVNEDGTVINRQNG | 3870 |
RYR2 | TVQQKMLDYLKEKKDVGFFQSLAGLMQSCS>V<LDLNAFERQNKAEGLGMVTEEGS------G | 3826 |
RYR3 | GVQQKMLDYLKEKKDAGFFQSLSGLMQSCS>V<LDLNAFERQNKAEGLGMVTEEGTLIVRERG | 3722 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V3840I | c.11518G>A | Other Myopathy | rs140616359 | SIFT: Polyphen: | |
Reports | Other Myopathy | Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943 | |||
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 |