Paralogue Annotation for RYR2 residue 4890

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4890
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4890

No paralogue variants have been mapped to residue 4890 for RYR2.

RYR2	AIIQGLIIDAFGELRDQQEQVKEDMETKCF>I<CGIGNDYFDTVPHGFETHTLQEHNLANYLF	4920
RYR1	AIIQGLIIDAFGELRDQQEQVKEDMETKCF>I<CGIGSDYFDTTPHGFETHTLEEHNLANYMF	4991
RYR3	AIIQGLIIDAFGELRDQQEQVREDMETKCF>I<CGIGNDYFDTTPHGFETHTLQEHNLANYLF	4823
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I4890V	c.14668A>G	Putative Benign			SIFT: deleterious Polyphen: benign