No paralogue variants have been mapped to residue 4927 for RYR1.
RYR1 | GIGDEIEDPAGDEYELYRVVFDITFFFFVI>V<ILLAIIQGLIIDAFGELRDQQEQVKEDMET | 4957 |
RYR2 | GIGDEIEDPAGDEYEIYRIIFDITFFFFVI>V<ILLAIIQGLIIDAFGELRDQQEQVKEDMET | 4886 |
RYR3 | GIGDEIEDPAGDPYEMYRIVFDITFFFFVI>V<ILLAIIQGLIIDAFGELRDQQEQVREDMET | 4789 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V4927F | c.14779G>T | Other Myopathy | rs193922892 | SIFT: Polyphen: | |
Reports | Other Myopathy | Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943 | |||
p.V4927I | c.14779G>A | Putative Benign | SIFT: Polyphen: |