Paralogue Annotation for RYR2 residue 17

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 17
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 17

No paralogue variants have been mapped to residue 17 for RYR2.

RYR2	MADGGE-GEDEIQFLRT>D<DEVVLQCTATIHKEQQKLCLAAEGFGNRLC	47
RYR1	MGD-AE-GEDEVQFLRT>D<DEVVLQCSATVLKEQLKLCLAAEGFGNRLC	46
RYR3	MAEGGEGGEDEIQFLRT>E<DEVVLQCIATIHKEQRKFCLAAEGLGNRLC	48
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D17N	c.49G>A	Putative Benign		rs370488091	SIFT: deleterious Polyphen: possibly damaging