Paralogue Annotation for RYR1 residue 4345

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4345
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4345

No paralogue variants have been mapped to residue 4345 for RYR1.

RYR1	RRVRRLRRLTAREAATAVAALLWAAVTRAG>A<AGAGAAAGALGLLWGSLFGGGLVEGAKKVT	4375
RYR2	KQMKKVKKMTVKDMVTAFFSSYWSIFMTLL>H<FVASVFRGFFRIICSLLLGGSLVEGAKKIK	4326
RYR3	KQYRNVKKMTAKELVKVLFSFFWMLFVGLF>Q<LLFTILGGIFQILWSTVFGGGLVEGAKNIR	4227
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A4345P	c.13033G>C	Putative Benign		rs12981200	SIFT: Polyphen: benign