Paralogue Annotation for RYR2 residue 289

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 289
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 289

No paralogue variants have been mapped to residue 289 for RYR2.

RYR2	TVHYEGGAVSVHARSLWRLETLRVAWSGSH>I<RWGQPFRLRHVTTGKYLSLMEDKNLLLMDK	319
RYR1	LVYYEGGAVCTHARSLWRLEPLRISWSGSH>L<RWGQPLRVRHVTTGQYLALTEDQGLVVVDA	303
RYR3	RIFYEAGGAGTRARSLWRVEPLRISWSGSN>I<RWGQAFRLRHLTTGHYLALTEDQGLILQDR	308
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I289V	c.865A>G	Putative Benign			SIFT: Polyphen: