Paralogue Annotation for RYR2 residue 293

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 293
Reference Amino Acid: Q - Glutamine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 293

No paralogue variants have been mapped to residue 293 for RYR2.

RYR2	EGGAVSVHARSLWRLETLRVAWSGSHIRWG>Q<PFRLRHVTTGKYLSLMEDKNLLLMDKEKAD	323
RYR1	EGGAVCTHARSLWRLEPLRISWSGSHLRWG>Q<PLRVRHVTTGQYLALTEDQGLVVVDASKAH	307
RYR3	EAGGAGTRARSLWRVEPLRISWSGSNIRWG>Q<AFRLRHLTTGHYLALTEDQGLILQDRAKSD	312
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q293H	c.879G>C	Putative Benign			SIFT: tolerated Polyphen: probably damaging