Paralogue Annotation for RYR2 residue 1888

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1888
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1888

No paralogue variants have been mapped to residue 1888 for RYR2.



RYR2--ELS----VDDAK-LQGAGEE--EAKGGK>R<PKEGLLQMKLPEPVKLQMCLLLQYLCDCQV1918
RYR1EKEEDEEETAQEKEDEEKEEEEAAEGEKEE>G<LEEGLLQMKLPESVKLQMCHLLEYFCDQEL1951
RYR3--VTQ----VEEKA-VEAG-----EKAGKE>A<PVKGLLQTRLPESVKLQMCELLSYLCDCEL1819
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1888Wc.5662C>T UnknownSIFT:
Polyphen:
ReportsUnknown 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.Arg1888Glnc.5663G>A UnknownSIFT:
Polyphen: