Paralogue Annotation for RYR2 residue 3853

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3853
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3853

No paralogue variants have been mapped to residue 3853 for RYR2.

RYR2	---GEKVLQDDEFTCDLFRFLQLLCEGHNS>D<FQNYLRTQTGNNTTVNIIISTVDYLLRVQE	3883
RYR1	RQNGEKVMADDEFTQDLFRFLQLLCEGHNN>D<FQNYLRTQTGNTTTINIIICTVDYLLRLQE	3927
RYR3	RERGEKVLQNDEFTRDLFRFLQLLCEGHNS>D<FQNFLRTQMGNTTTVNVIISTVDYLLRLQE	3779
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D3853N	c.11557G>A	Putative Benign		rs12742148	SIFT: deleterious Polyphen: probably damaging