Paralogue Annotation for RYR1 residue 183

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 183
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 183

No paralogue variants have been mapped to residue 183 for RYR1.

RYR1	SKQRSEGEKVRVGDDIILVSVSSERYLHLS>T<ASGELQVDASFMQTLWNMNPICSR--CEEG	211
RYR2	SKQRSEGEKVRVGDDLILVSVSSERYLHLS>Y<GNGSLHVDAAFQQTLWSVAPISSGSEAAQG	226
RYR3	SKQRSEGEKVRIGDDLILVSVSSERYLHLS>V<SNGNIQVDASFMQTLWNVHPTCSGSSIEEG	216
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T183I	c.548C>T	Putative Benign		rs150038701	SIFT: Polyphen: possibly damaging