No paralogue variants have been mapped to residue 1523 for RYR1.
RYR1 | MVWGGDFVSPGQQGRISHTDLVIGCLVDLA>T<GLMTFTANGKESNTFFQVEPNTKLFPAVFV | 1553 |
RYR2 | MVCAGESMSPGQ-G-RNNNGLEIGCVVDAA>S<GLLTFIANGKELSTYYQVEPSTKLFPAVFA | 1545 |
RYR3 | MVWGGDIVASSQRSNRSNVDLEIGCLVDLA>M<GMLSFSANGKELGTCYQVEPNTKVFPAVFL | 1449 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T1523P | c.4567A>C | Other Disease Phenotype | SIFT: Polyphen: | ||
Reports | Other Disease Phenotype | Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum. BMC Musculoskelet Disord. 2016 17:109. doi: 10.1186/s12891-016-0947-5. 26932181 |