Paralogue Annotation for RYR1 residue 2351

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2351
Reference Amino Acid: N - Asparagine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2351

No paralogue variants have been mapped to residue 2351 for RYR1.

RYR1	IGWNPCGGERYLDFLRFAVFVNGESVEENA>N<VVVRLLIRKPECFGPALRGEGGSGLLAAIE	2381
RYR2	IGWNPVEGERYLDFLRFAVFCNGESVEENA>N<VVVRLLIRRPECFGPALRGEGGNGLLAAME	2348
RYR3	VGWNPIEGERYLSFLRFAVFVNSESVEENA>S<VVVKLLIRRPECFGPALRGEGGNGLLAAMQ	2245
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N2351H	c.7051A>C	Putative Benign		rs376176332	SIFT: deleterious Polyphen: probably damaging
p.N2351S	c.7052A>G	Putative Benign			SIFT: Polyphen: