Paralogue Annotation for RYR2 residue 1173

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1173
Reference Amino Acid: M - Methionine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1173

No paralogue variants have been mapped to residue 1173 for RYR2.

RYR2	QRWHQGNEHYGRSWQAGDVVGCMVDMNEHT>M<MFTLNGEILLDDSGSELAFKDFDVGDGFIP	1203
RYR1	QRWHLGSEPFGRPWQPGDVVGCMIDLTENT>I<IFTLNGEVLMSDSGSETAFREIEIGDGFLP	1189
RYR3	QRWHQGSGYFGRTWQPGDVVGCMINLDDAS>M<IFTLNGELLITNKGSELAFADYEIENGFVP	1189
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M1173V	c.3517A>G	Putative Benign			SIFT: Polyphen: