Paralogue Annotation for RYR1 residue 75

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 75
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 75

No paralogue variants have been mapped to residue 75 for RYR1.

RYR1	LCFLEPTSNAQNVPPDLAICCFVLEQSLSV>R<ALQEMLANTVEAG--V---E-------SSQ	93
RYR2	LCFLESTSNSKNVPPDLSICTFVLEQSLSV>R<ALQEMLANTVEKSEGQVDVEKWKFMMKTAQ	106
RYR3	LCFLEPTSEAKYIPPDLCVCNFVLEQSLSV>R<ALQEMLANTGENG-GE---G-------AAQ	96
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R75Q	c.224G>A	Putative Benign		rs368516354	SIFT: deleterious Polyphen: probably damaging