Paralogue Annotation for RYR2 residue 900

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 900
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 900

No paralogue variants have been mapped to residue 900 for RYR2.

RYR2	SQIVLPPHLERIREKLAENIHELWVMNKIE>L<GWQYGPVRDDNKRQHPCLVEFSKLPEQERN	930
RYR1	VQIVLPPHLERIREKLAENIHELWALTRIE>Q<GWTYGPVRDDNKRLHPCLVDFHSLPEPERN	918
RYR3	SQVILPPHLEKIRDRLAENIHELWGMNKIE>L<GWTFGKIRDDNKRQHPCLVEFSKLPETEKN	917
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L900F	c.2698C>T	Putative Benign			SIFT: Polyphen: