Paralogue Annotation for RYR1 residue 3323

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3323
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3323

No paralogue variants have been mapped to residue 3323 for RYR1.

RYR1	PSALPAGAPPPCTAVTSDHLNSLLGNILRI>I<VNNLGIDEASWMKRLAVFAQPIVSRARPEL	3353
RYR2	PE----RAEMCCTALNSEHMNTLLGNILKI>I<YNNLGIDEGAWMKRLAVFSQPIINKVKPQL	3314
RYR3	PP----STGPCCTKVTSEHLSLILGNILKI>I<NNNLGIDEASWMKRIAVYAQPIISKARPDL	3210
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I3323V	c.9967A>G	Putative Benign			SIFT: Polyphen: