Paralogue Annotation for RYR1 residue 775

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 775
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 775

No paralogue variants have been mapped to residue 775 for RYR1.

RYR1	CCLDLSVPSISFRINGCPVQGVFESFNLDG>L<FFPVVSFSAGVKVRFLLGGRHGEFKFLPPP	805
RYR2	CCLDLSAPSISFRINGQPVQGMFENFNIDG>L<FFPVVSFSAGIKVRFLLGGRHGEFKFLPPP	817
RYR3	CCLDLGVPSISFRINGQPVQGMFENFNTDG>L<FFPVMSFSAGVKVRFLMGGRHGEFKFLPPS	804
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L775P	c.2324T>C	Putative Benign			SIFT: Polyphen: