Paralogue Annotation for RYR1 residue 3249

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3249
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3249

No paralogue variants have been mapped to residue 3249 for RYR1.

RYR1	YTTKSPRERAILGLPNSVEEMCPDIPVLER>L<MADIGGLAESGARYTEMPHVIEITLPMLCS	3279
RYR2	YNTKSSRERAALSLPTNVEDVCPNIPSLEK>L<MEEIVELAESGIRYTQMPHVMEVILPMLCS	3244
RYR3	FNTKTPRERSILGMPDTVEDMCPDIPQLEG>L<MKEINDLAESGARYTEMPHVIEVILPMLCN	3140
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L3249V	c.9745C>G	Putative Benign			SIFT: Polyphen: