Paralogue Annotation for RYR2 residue 248

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 248
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 248

No paralogue variants have been mapped to residue 248 for RYR2.

RYR2	SSGSEAAQGYLIGGDVLRLLHGHMDECLTV>P<SGEHGEEQRRTVHYEGGAVSVHARSLWRLE	278
RYR1	CSR--CEEGFVTGGHVLRLFHGHMDECLTI>S<PAD-SDDQRRLVYYEGGAVCTHARSLWRLE	262
RYR3	CSGSSIEEGYLLGGHVVRLFHGH-DECLTI>P<STDQNDSQHRRIFYEAGGAGTRARSLWRVE	267
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P248S	c.742C>T	Putative Benign			SIFT: Polyphen: