Paralogue Annotation for RYR1 residue 1196

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1196
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1196

No paralogue variants have been mapped to residue 1196 for RYR1.

RYR1	EVLMSDSGSETAFREIEIGDGFLPVCSLGP>G<QVGHLNLGQDVSSLRFFAICGLQEGFEPFA	1226
RYR2	EILLDDSGSELAFKDFDVGDGFIPVCSLGV>A<QVGRMNFGKDVSTLKYFTICGLQEGYEPFA	1240
RYR3	ELLITNKGSELAFADYEIENGFVPICCLGL>S<QIGRMNLGTDASTFKFYTMCGLQEGFEPFA	1226
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G1196S	c.3586G>A	Putative Benign			SIFT: Polyphen: