Paralogue Annotation for RYR2 residue 759

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 759
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 759

No paralogue variants have been mapped to residue 759 for RYR2.

RYR2	GLHLWSGCIARTVSSPNQHLLRTDDVISCC>L<DLSAPSISFRINGQPVQGMFENFNIDGLFF	789
RYR1	GLHLWTGHVARPVTSPGQHLLAPEDVISCC>L<DLSVPSISFRINGCPVQGVFESFNLDGLFF	777
RYR3	GLHLWSGRIPRAVASINQHLLRSDDVVSCC>L<DLGVPSISFRINGQPVQGMFENFNTDGLFF	776
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L759I	c.2275T>A	Putative Benign			SIFT: Polyphen: