Paralogue Annotation for RYR2 residue 4855

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4855
Reference Amino Acid: I - Isoleucine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4855

No paralogue variants have been mapped to residue 4855 for RYR2.

RYR2	GGIGDEIEDPAGDEYEIYRIIFDITFFFFV>I<VILLAIIQGLIIDAFGELRDQQEQVKEDME	4885
RYR1	GGIGDEIEDPAGDEYELYRVVFDITFFFFV>I<VILLAIIQGLIIDAFGELRDQQEQVKEDME	4956
RYR3	GGIGDEIEDPAGDPYEMYRIVFDITFFFFV>I<VILLAIIQGLIIDAFGELRDQQEQVREDME	4788
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I4855V	c.14563A>G	Putative Benign			SIFT: Polyphen:
p.Ile4855Met	c.14565T>G	Unknown			SIFT: Polyphen: