Paralogue Annotation for RYR2 residue 2757

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2757
Reference Amino Acid: M - Methionine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2757

No paralogue variants have been mapped to residue 2757 for RYR2.

RYR2	HSHDKWSMDKLANGWIYGEIYSDSSKVQPL>M<KPYKLLSEKEKEIYRWPIKESLKTMLAWGW	2787
RYR1	YTHEKWAFDKIQNNWSYGENIDEELKTHPM>L<RPYKTFSEKDKEIYRWPIKESLKAMIAWEW	2821
RYR3	HSHDKWACDKSQSGWKYGISLDENVKTHPL>I<RPFKTLTEKEKEIYRWPARESLKTMLAVGW	2684
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M2757V	c.8269A>G	Putative Benign		rs376015452	SIFT: deleterious Polyphen: benign