Paralogue Annotation for RYR2 residue 1808

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1808
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1808

No paralogue variants have been mapped to residue 1808 for RYR2.

RYR2	YSPEFPLDILKSKTIQMLTEAVKEGSLHAR>D<PVGGTTEFLFVPLIKLFYTLLIMGIFHNED	1838
RYR1	LSPAIPLEALRDKALRMLGEAVRDGGQHAR>D<PVGGSVEFQFVPVLKLVSTLLVMGIFGDED	1858
RYR3	QSPEIPLESLRTKALSMLTEAVQCSGAHIR>D<PVGGSVEFQFVPVLKLIGTLLVMGVFDDDD	1742
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D1808Y	c.5422G>T	Putative Benign			SIFT: Polyphen: