No paralogue variants have been mapped to residue 1888 for RYR2.
RYR2 | --ELS----VDDAK-LQGAGEE--EAKGGK>R<PKEGLLQMKLPEPVKLQMCLLLQYLCDCQV | 1918 |
RYR1 | EKEEDEEETAQEKEDEEKEEEEAAEGEKEE>G<LEEGLLQMKLPESVKLQMCHLLEYFCDQEL | 1951 |
RYR3 | --VTQ----VEEKA-VEAG-----EKAGKE>A<PVKGLLQTRLPESVKLQMCELLSYLCDCEL | 1819 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1888W | c.5662C>T | Unknown | SIFT: Polyphen: | ||
Reports | Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 | |||
p.Arg1888Gln | c.5663G>A | Unknown | SIFT: Polyphen: |