No paralogue variants have been mapped to residue 1293 for RYR1.
RYR1 | VDTPPCLRLTHRTWGSQNSLVEMLFLRLSL>P<VQFHQHFRCTAGATPLAPPGLQPPAEDEAR | 1323 |
RYR2 | IDSSPCLKVTQKSFGSQNSNTDIMFYRLSM>P<IECAEVFSKTV-AGGLPGAGLFGPK-NDLE | 1335 |
RYR3 | MDSPPCLKVTHKTFGTQNSNADMIYCRLSM>P<VECHSSFSH--------------------- | 1302 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1293T | c.3877C>A | Other Myopathy | rs146407179 | SIFT: Polyphen: | |
Reports | Other Myopathy | Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat. 2012 33(6):981-8. doi: 10.1002/humu.22056. 22473935 | |||
Other Myopathy | Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594 |