Paralogue Annotation for RYR2 residue 294

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 294
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 294

No paralogue variants have been mapped to residue 294 for RYR2.

RYR2	GGAVSVHARSLWRLETLRVAWSGSHIRWGQ>P<FRLRHVTTGKYLSLMEDKNLLLMDKEKADV	324
RYR1	GGAVCTHARSLWRLEPLRISWSGSHLRWGQ>P<LRVRHVTTGQYLALTEDQGLVVVDASKAHT	308
RYR3	AGGAGTRARSLWRVEPLRISWSGSNIRWGQ>A<FRLRHLTTGHYLALTEDQGLILQDRAKSDT	313
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P294L	c.881C>T	Putative Benign			SIFT: Polyphen: benign