No paralogue variants have been mapped to residue 1645 for RYR1.
RYR1 | ETRRAGERLGWAVQCQEPLTMMALHIPEEN>R<CMDILELSERLDLQRFHSHTLRLYRAVCAL | 1675 |
RYR2 | DVSRISERQGWLVQCLDPLQFMSLHIPEEN>R<SVDILELTEQEELLKFHYHTLRLYSAVCAL | 1667 |
RYR3 | ETERVSERHGWVVQCLEPLQMMALHIPEEN>R<CVDILELCEQEDLMRFHYHTLRLYSAVCAL | 1571 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1645Q | c.4934G>A | Other Myopathy | rs193922778 | SIFT: Polyphen: probably damaging | |
Reports | Other Myopathy | Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. Hum Mutat. 2008 29(5):670-8. 18253926 |