No paralogue variants have been mapped to residue 2404 for RYR1.
RYR1 | SGLLAAIEEAIRISEDPARDGPGIRRDRRR>E<HFGEEPPEENRVHLGHAIMSFYAALIDLLG | 2434 |
RYR2 | NGLLAAMEEAIKIAEDPSRDGPSPNS-GSS>K<TLDTEEEEDDTIHMGNAIMTFYSALIDLLG | 2400 |
RYR3 | NGLLAAMQGAIKISENPALDLPSQGY-KRE>V<STGDDEEEEEIVHMGNAIMSFYSALIDLLG | 2297 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E2404K | c.7210G>A | Other Myopathy | rs111364296 | SIFT: Polyphen: | |
Reports | Other Myopathy | Increasing the number of diagnostic mutations in malignant hyperthermia. Hum Mutat. 2009 30(4):590-8. 19191329 | |||
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 |