Paralogue Annotation for RYR2 residue 3833

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3833
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3833

No paralogue variants have been mapped to residue 3833 for RYR2.

RYR2	ERQNKAEGLGMVTEEGS------GEKVLQD>D<EFTCDLFRFLQLLCEGHNSDFQNYLRTQTG	3863
RYR1	ERQNKAEGLGMVNEDGTVINRQNGEKVMAD>D<EFTQDLFRFLQLLCEGHNNDFQNYLRTQTG	3907
RYR3	ERQNKAEGLGMVTEEGTLIVRERGEKVLQN>D<EFTRDLFRFLQLLCEGHNSDFQNFLRTQMG	3759
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D3833N	c.11497G>A	Putative Benign			SIFT: Polyphen: