Paralogue Annotation for RYR2 residue 449

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 449
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 449

No paralogue variants have been mapped to residue 449 for RYR2.

RYR2	VFLFNRFIRGLDALSKKAKA----STVDLP>I<ESVSLSLQDLIGYFHPPDEHLEHEDKQNRL	479
RYR1	NGLYNQFIKSLDSFSGKPRGSGPPAGTALP>I<EGVILSLQDLIIYFEPPSEDLQHEEKQSKL	467
RYR3	TALFSQFVSGN-----NRTA----APITLP>I<EEVLQTLQDLIAYFQPPEEEMRHEDKQNKL	466
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I449R	c.1346T>G	Putative Benign		rs373331669	SIFT: tolerated Polyphen: benign
p.I449V	c.1345A>G	Putative Benign			SIFT: Polyphen: