Paralogue Annotation for RYR2 residue 1059

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1059
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1059

No paralogue variants have been mapped to residue 1059 for RYR2.

RYR2	NPRLVPYTLLDDRTKKSNKDSLREAVRTLL>G<YGYNLEAPDQDHAARAEVCSGTGERFRIFR	1089
RYR1	NPRLVPYRLLDEATKRSNRDSLCQAVRTLL>G<YGYNIEPPDQEP-SQVEN-QSRCDRVRIFR	1075
RYR3	NPRLVPYALLDERTKKSNRDSLREAVRTFV>G<YGYNIEPSDQEL-ADSAVEKVSIDKIRFFR	1075
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G1059E	c.3176G>A	Putative Benign			SIFT: tolerated Polyphen: probably damaging