Paralogue Annotation for RYR2 residue 4903

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4903
Reference Amino Acid: H - Histidine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4903

No paralogue variants have been mapped to residue 4903 for RYR2.

RYR2	LRDQQEQVKEDMETKCFICGIGNDYFDTVP>H<GFETHTLQEHNLANYLFFLMYLINKDETEH	4933
RYR1	LRDQQEQVKEDMETKCFICGIGSDYFDTTP>H<GFETHTLEEHNLANYMFFLMYLINKDETEH	5004
RYR3	LRDQQEQVREDMETKCFICGIGNDYFDTTP>H<GFETHTLQEHNLANYLFFLMYLINKDETEH	4836
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H4903R	c.14708A>G	Putative Benign			SIFT: Polyphen: