Paralogue Annotation for RYR2 residue 748

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 748
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 748

No paralogue variants have been mapped to residue 748 for RYR2.

RYR2	VGDDLFSYGFDGLHLWSGCIARTVSSPNQH>L<LRTDDVISCCLDLSAPSISFRINGQPVQGM	778
RYR1	VGDDLYSYGFDGLHLWTGHVARPVTSPGQH>L<LAPEDVISCCLDLSVPSISFRINGCPVQGV	766
RYR3	VGDDLYSYGFDGLHLWSGRIPRAVASINQH>L<LRSDDVVSCCLDLGVPSISFRINGQPVQGM	765
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L748M	c.2242C>A	Putative Benign			SIFT: Polyphen: