No paralogue variants have been mapped to residue 214 for RYR1.
RYR1 | GELQVDASFMQTLWNMNPICSR--CEEGFV>T<GGHVLRLFHGHMDECLTISPAD-SDDQRRL | 243 |
RYR2 | GSLHVDAAFQQTLWSVAPISSGSEAAQGYL>I<GGDVLRLLHGHMDECLTVPSGEHGEEQRRT | 259 |
RYR3 | GNIQVDASFMQTLWNVHPTCSGSSIEEGYL>L<GGHVVRLFHGH-DECLTIPSTDQNDSQHRR | 248 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T214M | c.641C>T | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | 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 |