No paralogue variants have been mapped to residue 1267 for RYR1.
RYR1 | FSKGLPQFEPVPLEHPHYEVSRVDGTVDTP>P<CLRLTHRTWGSQNSLVEMLFLRLSLPVQFH | 1297 |
RYR2 | LSKRLPQFLQVPSNHEHIEVTRIDGTIDSS>P<CLKVTQKSFGSQNSNTDIMFYRLSMPIECA | 1311 |
RYR3 | FSKRLPTFVNVPKDHPHIEVMRIDGTMDSP>P<CLKVTHKTFGTQNSNADMIYCRLSMPVECH | 1297 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1267R | c.3800C>G | Other Myopathy | rs150495044 | SIFT: Polyphen: probably damaging | |
Reports | Other Myopathy | Genotype-phenotype correlations in recessive RYR1-related myopathies. Orphanet J Rare Dis. 2013 8:117. doi: 10.1186/1750-1172-8-117. 23919265 | |||
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 | Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS. Neurol Genet. 2015 1(2):e14. doi: 10.1212/NXG.0000000000000015. eColl 27066551 | ||||
p.P1267H | c.3800C>A | Putative Benign | SIFT: Polyphen: |