No paralogue variants have been mapped to residue 492 for RYR1.
RYR1 | EKQSKLRSLRNRQSLFQEEGMLSMVLNCID>R<LNVYTTAAHFAEFAGEEAAESWKEIVNLLY | 522 |
RYR2 | DKQNRLRALKNRQNLFQEEGMINLVLECID>R<LHVYSSAAHFADVAGREAGESWKSILNSLY | 534 |
RYR3 | DKQNKLRSLKNRQNLFKEEGMLALVLNCID>R<LNVYNSVAHFAGIAREESGMAWKEILNLLY | 521 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R492C | c.1474C>T | Putative Benign | rs199826952 | SIFT: Polyphen: probably damaging | |
p.R492G | c.1474C>G | Putative Benign | SIFT: Polyphen: | ||
p.R492H | c.1475G>A | Other Disease Phenotype | SIFT: Polyphen: | ||
Reports | Other Disease Phenotype | Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness. Anesthesiology. 2015 122(5):1033-46. doi: 10.1097/ALN.0000000000000610. 25658027 |