Paralogue Annotation for RYR2 residue 1922

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1922
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1922

No paralogue variants have been mapped to residue 1922 for RYR2.

RYR2	GLLQMKLPEPVKLQMCLLLQYLCDCQVRHR>I<EAIVAFSDDFVAKLQDNQRFRYNEVMQALN	1952
RYR1	GLLQMKLPESVKLQMCHLLEYFCDQELQHR>V<ESLAAFAERYVDKLQANQRSRYGLLIKAFS	1985
RYR3	GLLQTRLPESVKLQMCELLSYLCDCELQHR>V<EAIVAFGDIYVSKLQANQKFRYNELMQALN	1853
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I1922V	c.5764A>G	Putative Benign		rs374874044	SIFT: tolerated Polyphen: benign