Paralogue Annotation for RYR2 residue 2746

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2746
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2746

No paralogue variants have been mapped to residue 2746 for RYR2.

RYR2	KLEYFINKYAEHSHDKWSMDKLANGWIYGE>I<YSDSSKVQPLMKPYKLLSEKEKEIYRWPIK	2776
RYR1	KLDSFINKFAEYTHEKWAFDKIQNNWSYGE>N<IDEELKTHPMLRPYKTFSEKDKEIYRWPIK	2810
RYR3	KLEYIVTKYAEHSHDKWACDKSQSGWKYGI>S<LDENVKTHPLIRPFKTLTEKEKEIYRWPAR	2673
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I2746M	c.8238A>G	Putative Benign		rs371604667	SIFT: tolerated Polyphen: benign