Paralogue Annotation for RYR1 residue 749

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 749
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 749

No paralogue variants have been mapped to residue 749 for RYR1.

RYR1	HLWTGHVARPVTSPGQHLLAPEDVISCCLD>L<SVPSISFRINGCPVQGVFESFNLDGLFFPV	779
RYR2	HLWSGCIARTVSSPNQHLLRTDDVISCCLD>L<SAPSISFRINGQPVQGMFENFNIDGLFFPV	791
RYR3	HLWSGRIPRAVASINQHLLRSDDVVSCCLD>L<GVPSISFRINGQPVQGMFENFNTDGLFFPV	778
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L749V	c.2245C>G	Putative Benign			SIFT: deleterious Polyphen: probably damaging