Paralogue Annotation for RYR2 residue 2592

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2592
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2592

No paralogue variants have been mapped to residue 2592 for RYR2.

RYR2	TKAQRDSIEVCLLSICGQLRPSMMQHLLRR>L<VFDVPLLNEHAKMPLKLLTNHYERCWKYYC	2622
RYR1	TKAQRDVIEDCLMSLCRYIRPSMLQHLLRR>L<VFDVPILNEFAKMPLKLLTNHYERCWKYYC	2656
RYR3	TKAQRDTIEECLLAICNHLRPSMLQQLLRR>L<VFDVPQLNEYCKMPLKLLTNHYEQCWKYYC	2519
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L2592V	c.7774T>G	Putative Benign			SIFT: Polyphen: