Paralogue Annotation for RYR2 residue 2750

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2750
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2750

No paralogue variants have been mapped to residue 2750 for RYR2.

RYR2	FINKYAEHSHDKWSMDKLANGWIYGEIYSD>S<SKVQPLMKPYKLLSEKEKEIYRWPIKESLK	2780
RYR1	FINKFAEYTHEKWAFDKIQNNWSYGENIDE>E<LKTHPMLRPYKTFSEKDKEIYRWPIKESLK	2814
RYR3	IVTKYAEHSHDKWACDKSQSGWKYGISLDE>N<VKTHPLIRPFKTLTEKEKEIYRWPARESLK	2677
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S2750T	c.8248T>A	Putative Benign			SIFT: tolerated Polyphen: benign