Paralogue Annotation for RYR1 residue 1192

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1192
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1192

No paralogue variants have been mapped to residue 1192 for RYR1.

RYR1	TLNGEVLMSDSGSETAFREIEIGDGFLPVC>S<LGPGQVGHLNLGQDVSSLRFFAICGLQEGF	1222
RYR2	TLNGEILLDDSGSELAFKDFDVGDGFIPVC>S<LGVAQVGRMNFGKDVSTLKYFTICGLQEGY	1236
RYR3	TLNGELLITNKGSELAFADYEIENGFVPIC>C<LGLSQIGRMNLGTDASTFKFYTMCGLQEGF	1222
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S1192T	c.3575G>C	Putative Benign			SIFT: Polyphen: