Paralogue Annotation for RYR2 residue 1807

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1807
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1807

No paralogue variants have been mapped to residue 1807 for RYR2.

RYR2	QYSPEFPLDILKSKTIQMLTEAVKEGSLHA>R<DPVGGTTEFLFVPLIKLFYTLLIMGIFHNE	1837
RYR1	RLSPAIPLEALRDKALRMLGEAVRDGGQHA>R<DPVGGSVEFQFVPVLKLVSTLLVMGIFGDE	1857
RYR3	KQSPEIPLESLRTKALSMLTEAVQCSGAHI>R<DPVGGSVEFQFVPVLKLIGTLLVMGVFDDD	1741
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1807Q	c.5420G>A	Putative Benign			SIFT: deleterious Polyphen: probably damaging
p.R1807W	c.5419C>T	Putative Benign			SIFT: Polyphen: