Paralogue Annotation for RYR2 residue 257

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 257
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 257

No paralogue variants have been mapped to residue 257 for RYR2.

RYR2	YLIGGDVLRLLHGHMDECLTVPSGEHGEEQ>R<RTVHYEGGAVSVHARSLWRLETLRVAWSGS	287
RYR1	FVTGGHVLRLFHGHMDECLTISPAD-SDDQ>R<RLVYYEGGAVCTHARSLWRLEPLRISWSGS	271
RYR3	YLLGGHVVRLFHGH-DECLTIPSTDQNDSQ>H<RRIFYEAGGAGTRARSLWRVEPLRISWSGS	276
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R257W	c.769C>T	Putative Benign			SIFT: Polyphen: