Paralogue Annotation for RYR2 residue 1213

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1213
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1213

No paralogue variants have been mapped to residue 1213 for RYR2.

RYR2	LDDSGSELAFKDFDVGDGFIPVCSLGVAQV>G<RMNFGKDVSTLKYFTICGLQEGYEPFAVNT	1243
RYR1	MSDSGSETAFREIEIGDGFLPVCSLGPGQV>G<HLNLGQDVSSLRFFAICGLQEGFEPFAINM	1229
RYR3	ITNKGSELAFADYEIENGFVPICCLGLSQI>G<RMNLGTDASTFKFYTMCGLQEGFEPFAVNM	1229
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G1213A	c.3638G>C	Putative Benign			SIFT: Polyphen: