Paralogue Annotation for RYR2 residue 2584

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2584
Reference Amino Acid: M - Methionine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2584

No paralogue variants have been mapped to residue 2584 for RYR2.

RYR2	RLSKGCSLTKAQRDSIEVCLLSICGQLRPS>M<MQHLLRRLVFDVPLLNEHAKMPLKLLTNHY	2614
RYR1	RLSRGRSLTKAQRDVIEDCLMSLCRYIRPS>M<LQHLLRRLVFDVPILNEFAKMPLKLLTNHY	2648
RYR3	RLSKGRSLTKAQRDTIEECLLAICNHLRPS>M<LQQLLRRLVFDVPQLNEYCKMPLKLLTNHY	2511
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M2584V	c.7750A>G	Putative Benign			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.M2584K	c.7751T>A	Putative Benign			SIFT: Polyphen: