No paralogue variants have been mapped to residue 3074 for RYR1.
RYR1 | CKLAALVRHRVSLFGTDAPAVVNCLHILAR>S<LDARTVMKSGPEIVKAGLRSFFESASEDIE | 3104 |
RYR2 | CKLGVLVRHRISLFGNDATSIVNCLHILGQ>T<LDARTVMKTGLESVKSALRAFLDNAAEDLE | 3069 |
RYR3 | CKLAALVRHRISLFGSDSTTMVSCLHILAQ>T<LDTRTVMKSGSELVKAGLRAFFENAAEDLE | 2965 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S3074P | c.9220T>C | Other Disease Phenotype | SIFT: Polyphen: | ||
Reports | Other Disease Phenotype | An exome sequencing strategy to diagnose lethal autosomal recessive disorders. Eur J Hum Genet. 2015 23(3):401-4. doi: 10.1038/ejhg.2014.120. 24961629 |