No paralogue variants have been mapped to residue 929 for RYR2.
RYR2 | ELGWQYGPVRDDNKRQHPCLVEFSKLPEQE>R<NYNLQMSLETLKTLLALGCHVGISDEHAED | 959 |
RYR1 | EQGWTYGPVRDDNKRLHPCLVDFHSLPEPE>R<NYNLQMSGETLKTLLALGCHVGMADEKAED | 947 |
RYR3 | ELGWTFGKIRDDNKRQHPCLVEFSKLPETE>K<NYNLQMSTETLKTLLALGCHIAHVNPAAEE | 946 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R929H | c.2786G>A | Cardiomyopathy | HCM | SIFT: Polyphen: | |
Reports | Cardiomyopathy | HCM | Investigation of Pathogenic Genes in Chinese sporadic Hypertrophic Cardiomyopathy Patients by Whole Exome Sequencing. Sci Rep. 2015 5:16609. doi: 10.1038/srep16609. 26573135 | ||
p.Arg929His | c.2786G>A | Unknown | SIFT: Polyphen: |