Paralogue Annotation for RYR1 residue 3292

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3292
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3292

No paralogue variants have been mapped to residue 3292 for RYR1.

RYR1	RYTEMPHVIEITLPMLCSYLPRWWERGPEA>P<PSALPAGAPPPCTAVTSDHLNSLLGNILRI	3322
RYR2	RYTQMPHVMEVILPMLCSYMSRWWEHGPEN>N<PE----RAEMCCTALNSEHMNTLLGNILKI	3283
RYR3	RYTEMPHVIEVILPMLCNYLSYWWERGPEN>L<PP----STGPCCTKVTSEHLSLILGNILKI	3179
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P3292S	c.9874C>T	Putative Benign		rs144135230	SIFT: Polyphen: benign