No paralogue variants have been mapped to residue 2724 for RYR1.
RYR1 | ELYRMAMPCLCAIAGALPPDYVDASYSSKA>E<KKATVDAEGNFDPRPVETLNVIIPEKLDSF | 2754 |
RYR2 | ELFKLALPCLSAVAGALPPDYMESNYVSMM>E<KQSSMDSEGNFNPQPVDTSNITIPEKLEYF | 2720 |
RYR3 | DLFRMALPCLSAIAGALPPDYLDTRITATL>E<KQISVDADGNFDPKPINTMNFSLPEKLEYI | 2617 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E2724K | c.8170G>A | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Novel variants near the central domain of RYR1 in two malignant hyperthermia-susceptible families from Taiwan. Anesth Analg. 2009 109(4):1273-7. 19762757 |