Paralogue Annotation for RYR1 residue 1227

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1227
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1227

No paralogue variants have been mapped to residue 1227 for RYR1.

RYR1	QVGHLNLGQDVSSLRFFAICGLQEGFEPFA>I<NMQRPVTTWFSKGLPQFEPVPLEHPHYEVS	1257
RYR2	QVGRMNFGKDVSTLKYFTICGLQEGYEPFA>V<NTNRDITMWLSKRLPQFLQVPSNHEHIEVT	1271
RYR3	QIGRMNLGTDASTFKFYTMCGLQEGFEPFA>V<NMNRDVAMWFSKRLPTFVNVPKDHPHIEVM	1257
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I1227V	c.3679A>G	Putative Benign			SIFT: Polyphen: