Paralogue Annotation for RYR1 residue 193

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 193
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 193

No paralogue variants have been mapped to residue 193 for RYR1.

RYR1	RVGDDIILVSVSSERYLHLSTASGELQVDA>S<FMQTLWNMNPICSR--CEEGFVTGGHVLRL	221
RYR2	RVGDDLILVSVSSERYLHLSYGNGSLHVDA>A<FQQTLWSVAPISSGSEAAQGYLIGGDVLRL	236
RYR3	RIGDDLILVSVSSERYLHLSVSNGNIQVDA>S<FMQTLWNVHPTCSGSSIEEGYLLGGHVVRL	226
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S193C	c.578C>G	Putative Benign			SIFT: Polyphen:
p.Ser193Thr	c.577T>A	Unknown			SIFT: Polyphen: