Paralogue Annotation for RYR1 residue 4342

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4342
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4342

No paralogue variants have been mapped to residue 4342 for RYR1.

RYR1	SLRRRVRRLRRLTAREAATAVAALLWAAVT>R<AGAAGAGAAAGALGLLWGSLFGGGLVEGAK	4372
RYR2	SLKKQMKKVKKMTVKDMVTAFFSSYWSIFM>T<LLHFVASVFRGFFRIICSLLLGGSLVEGAK	4323
RYR3	NLRKQYRNVKKMTAKELVKVLFSFFWMLFV>G<LFQLLFTILGGIFQILWSTVFGGGLVEGAK	4224
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R4342H	c.13025G>A	Putative Benign			SIFT: tolerated Polyphen: