No paralogue variants have been mapped to residue 1467 for RYR1.
RYR1 | RVFAGQEPSCVWAGWVTPDYHQHDMSFDLS>K<VRVVTVTMGDEQGNVHSSLKCSNCYMVWGG | 1497 |
RYR2 | RIFPGQEPANVWVGWITSDFHQYDTGFDLD>R<VRTVTVTLGDEKGKVHESIKRSNCYMVCAG | 1491 |
RYR3 | RIFAGQDPSCVWVGWVTPDYHLYSEKFDLN>K<NCTVTVTLGDERGRVHESVKRSNCYMVWGG | 1393 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K1467R | c.4400A>G | Other Myopathy | rs145573319 | SIFT: Polyphen: | |
Reports | Other Myopathy | Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families. Clin Genet. 2011 79(5):438-47. doi: 10.1111/j.1399-0004.2010.01493. 20681998 | |||
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 |