No paralogue variants have been mapped to residue 1886 for RYR2.
RYR2 | K---ELS----VDDAK-LQGAGEE--EAKG>G<KRPKEGLLQMKLPEPVKLQMCLLLQYLCDC | 1916 |
RYR1 | EEEKEEDEEETAQEKEDEEKEEEEAAEGEK>E<EGLEEGLLQMKLPESVKLQMCHLLEYFCDQ | 1949 |
RYR3 | E---VTQ----VEEKA-VEAG-----EKAG>K<EAPVKGLLQTRLPESVKLQMCELLSYLCDC | 1817 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G1886S | c.5656G>A | Benign | rs3766871 | SIFT: tolerated Polyphen: benign | |
Reports | Benign | The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. J Am Coll Cardiol. 2009 54(22):2065-74. 19926015 | |||
Putative Benign | Composite polymorphisms in the ryanodine receptor 2 gene associated with arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Res. 2006 71(3):496-505. 16769042 |