No paralogue variants have been mapped to residue 3253 for RYR1.
RYR1 | SPRERAILGLPNSVEEMCPDIPVLERLMAD>I<GGLAESGARYTEMPHVIEITLPMLCSYLPR | 3283 |
RYR2 | SSRERAALSLPTNVEDVCPNIPSLEKLMEE>I<VELAESGIRYTQMPHVMEVILPMLCSYMSR | 3248 |
RYR3 | TPRERSILGMPDTVEDMCPDIPQLEGLMKE>I<NDLAESGARYTEMPHVIEVILPMLCNYLSY | 3144 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I3253T | c.9758T>C | Other Myopathy | rs375626634 | SIFT: deleterious Polyphen: benign | |
Reports | Other Myopathy | An integrated diagnosis strategy for congenital myopathies. PLoS One. 2013 8(6):e67527. doi: 10.1371/journal.pone.0067527. Pr 23826317 | |||
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 |