Paralogue Annotation for RYR1 residue 3299

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3299
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3299

No paralogue variants have been mapped to residue 3299 for RYR1.

RYR1	VIEITLPMLCSYLPRWWERGPEAPPSALPA>G<APPPCTAVTSDHLNSLLGNILRIIVNNLGI	3329
RYR2	VMEVILPMLCSYMSRWWEHGPENNPE---->R<AEMCCTALNSEHMNTLLGNILKIIYNNLGI	3290
RYR3	VIEVILPMLCNYLSYWWERGPENLPP---->S<TGPCCTKVTSEHLSLILGNILKIINNNLGI	3186
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G3299S	c.9895G>A	Putative Benign		rs372203483	SIFT: tolerated Polyphen: benign
p.G3299V	c.9896G>T	Putative Benign		rs376790408	SIFT: tolerated Polyphen: benign