Paralogue Annotation for RYR2 residue 3466

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3466
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3466

No paralogue variants have been mapped to residue 3466 for RYR2.

RYR2	KAA-----VSDQERKKMKRKGDRYSMQTSL>I<VAALKRLLPIGLNICAPGDQELIALAKNRF	3496
RYR1	KAGDIQSGGSDQERTKKKRRGDRYSVQTSL>I<VATLKKMLPIGLNMCAPTDQDLITLAKTRY	3540
RYR3	KAMQVKSGGQDQERKKTKRRGDLYSIQTSL>I<VAALKKMLPIGLNMCTPGDQELISLAKSRY	3397
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I3466M	c.10398T>G	Putative Benign			SIFT: tolerated Polyphen: possibly damaging