No paralogue variants have been mapped to residue 1729 for RYR1.
RYR1 | DAHLPGPLRAGYYDLLISIHLESACRSRRS>M<LSEYIVPLTPETRAITLFPPGRSTENGHPR | 1759 |
RYR2 | NKYMPGLLRAGYYDLLIDIHLSSYATARLM>M<NNEYIVPMTEETKSITLFPD------ENKK | 1745 |
RYR3 | NKYLPGLLRSGFYDLLISIHLASAKERKLM>M<KNEYIIPITSTTRNIRLFPD------ESKR | 1649 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M1729R | c.5186T>G | Other Myopathy | rs193922782 | SIFT: Polyphen: | |
Reports | Other Myopathy | Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943 |