Paralogue Annotation for RYR2 residue 2225

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2225
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2225

No paralogue variants have been mapped to residue 2225 for RYR2.

RYR2	NCCRFLCYFCRISRQNQKAMFDHLSYLLEN>S<SVGLASPAMRGSTPLDVAAASVMDNNELAL	2255
RYR1	SCCRFLCYFCRISRQNQRSMFDHLSYLLEN>S<GIG--L-GMQGSTPLDVAAASVIDNNELAL	2288
RYR3	SCCRFLCYFCRISRQNQKAMFEHLSYLLEN>S<SVGLASPSMRGSTPLDVAASSVMDNNELAL	2152
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S2225R	c.6675C>A	Putative Benign			SIFT: deleterious Polyphen: probably damaging