No paralogue variants have been mapped to residue 178 for RYR1.
RYR1 | TMHPASKQRSEGEKVRVGDDIILVSVSSER>Y<LHLSTASGELQVDASFMQTLWNMNPICSR- | 207 |
RYR2 | TIHPASKQRSEGEKVRVGDDLILVSVSSER>Y<LHLSYGNGSLHVDAAFQQTLWSVAPISSGS | 221 |
RYR3 | TIHPASKQRSEGEKVRIGDDLILVSVSSER>Y<LHLSVSNGNIQVDASFMQTLWNVHPTCSGS | 211 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Y178C | c.533A>G | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. Hum Mutat. 2005 26(5):413-25. 16163667 | |||
p.Y178F | c.533A>T | Putative Benign | rs193922758 | SIFT: Polyphen: probably damaging |