Paralogue Annotation for RYR2 residue 4824

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4824
Reference Amino Acid: G - Glycine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4824

No paralogue variants have been mapped to residue 4824 for RYR2.

RYR2	NKSEDGDTPDMKCDDMLTCYMFHMYVGVRA>G<GGIGDEIEDPAGDEYEIYRIIFDITFFFFV	4854
RYR1	NKSEDEDEPDMKCDDMMTCYLFHMYVGVRA>G<GGIGDEIEDPAGDEYELYRVVFDITFFFFV	4925
RYR3	NKSEDDDEPDMKCDDMMTCYLFHMYVGVRA>G<GGIGDEIEDPAGDPYEMYRIVFDITFFFFV	4757
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G4824R	c.14470G>A	Putative Benign		rs267598441	SIFT: deleterious Polyphen: probably damaging