Paralogue Annotation for RYR2 residue 4808

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4808
Reference Amino Acid: D - Aspartate
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4808

No paralogue variants have been mapped to residue 4808 for RYR2.

RYR2	VYLYTVVAFNFFRKFYNKSEDGDTPDMKCD>D<MLTCYMFHMYVGVRAGGGIGDEIEDPAGDE	4838
RYR1	VYLYTVVAFNFFRKFYNKSEDEDEPDMKCD>D<MMTCYLFHMYVGVRAGGGIGDEIEDPAGDE	4909
RYR3	VYLYTVVAFNFFRKFYNKSEDDDEPDMKCD>D<MMTCYLFHMYVGVRAGGGIGDEIEDPAGDP	4741
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D4808N	c.14422G>A	Putative Benign			SIFT: Polyphen: