Paralogue Annotation for RYR1 residue 3256

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3256
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3256

No paralogue variants have been mapped to residue 3256 for RYR1.

RYR1	ERAILGLPNSVEEMCPDIPVLERLMADIGG>L<AESGARYTEMPHVIEITLPMLCSYLPRWWE	3286
RYR2	ERAALSLPTNVEDVCPNIPSLEKLMEEIVE>L<AESGIRYTQMPHVMEVILPMLCSYMSRWWE	3251
RYR3	ERSILGMPDTVEDMCPDIPQLEGLMKEIND>L<AESGARYTEMPHVIEVILPMLCNYLSYWWE	3147
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L3256Q	c.9767T>A	Putative Benign			SIFT: Polyphen: