Paralogue Annotation for RYR2 residue 1168

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1168
Reference Amino Acid: M - Methionine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1168

No paralogue variants have been mapped to residue 1168 for RYR2.

RYR2	DGFKAQRWHQGNEHYGRSWQAGDVVGCMVD>M<NEHTMMFTLNGEILLDDSGSELAFKDFDVG	1198
RYR1	NGHRGQRWHLGSEPFGRPWQPGDVVGCMID>L<TENTIIFTLNGEVLMSDSGSETAFREIEIG	1184
RYR3	EGNRGQRWHQGSGYFGRTWQPGDVVGCMIN>L<DDASMIFTLNGELLITNKGSELAFADYEIE	1184
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M1168T	c.3503T>C	Putative Benign			SIFT: Polyphen: