Paralogue Annotation for RYR2 residue 250

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 250
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 250

No paralogue variants have been mapped to residue 250 for RYR2.

RYR2	GSEAAQGYLIGGDVLRLLHGHMDECLTVPS>G<EHGEEQRRTVHYEGGAVSVHARSLWRLETL	280
RYR1	R--CEEGFVTGGHVLRLFHGHMDECLTISP>A<D-SDDQRRLVYYEGGAVCTHARSLWRLEPL	264
RYR3	GSSIEEGYLLGGHVVRLFHGH-DECLTIPS>T<DQNDSQHRRIFYEAGGAGTRARSLWRVEPL	269
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G250V	c.749G>T	Putative Benign		rs376925177	SIFT: tolerated Polyphen: benign