Paralogue Annotation for RYR1 residue 754

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 754
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 754

No paralogue variants have been mapped to residue 754 for RYR1.

RYR1	HVARPVTSPGQHLLAPEDVISCCLDLSVPS>I<SFRINGCPVQGVFESFNLDGLFFPVVSFSA	784
RYR2	CIARTVSSPNQHLLRTDDVISCCLDLSAPS>I<SFRINGQPVQGMFENFNIDGLFFPVVSFSA	796
RYR3	RIPRAVASINQHLLRSDDVVSCCLDLGVPS>I<SFRINGQPVQGMFENFNTDGLFFPVMSFSA	783
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I754V	c.2260A>G	Putative Benign			SIFT: Polyphen: