Paralogue Annotation for RYR1 residue 4353

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4353
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4353

No paralogue variants have been mapped to residue 4353 for RYR1.

RYR1	LTAREAATAVAALLWAAVTRAGAAGAGAAA>G<ALGLLWGSLFGGGLVEGAKKVTVTELLAGM	4383
RYR2	MTVKDMVTAFFSSYWSIFMTLLHFVASVFR>G<FFRIICSLLLGGSLVEGAKKIKVAELLANM	4334
RYR3	MTAKELVKVLFSFFWMLFVGLFQLLFTILG>G<IFQILWSTVFGGGLVEGAKNIRVTKILGDM	4235
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G4353D	c.13058G>A	Putative Benign			SIFT: tolerated Polyphen: benign