Paralogue Annotation for RYR1 residue 82

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 82
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 82

No paralogue variants have been mapped to residue 82 for RYR1.

RYR1	SNAQNVPPDLAICCFVLEQSLSVRALQEML>A<NTVEAG--V---E-------SSQGGGHRTL	100
RYR2	SNSKNVPPDLSICTFVLEQSLSVRALQEML>A<NTVEKSEGQVDVEKWKFMMKTAQGGGHRTL	113
RYR3	SEAKYIPPDLCVCNFVLEQSLSVRALQEML>A<NTGENG-GE---G-------AAQGGGHRTL	103
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A82P	c.244G>C	Putative Benign			SIFT: Polyphen: