Paralogue Annotation for RYR1 residue 4974

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4974
Reference Amino Acid: H - Histidine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4974

No paralogue variants have been mapped to residue 4974 for RYR1.

RYR1	LRDQQEQVKEDMETKCFICGIGSDYFDTTP>H<GFETHTLEEHNLANYMFFLMYLINKDETEH	5004
RYR2	LRDQQEQVKEDMETKCFICGIGNDYFDTVP>H<GFETHTLQEHNLANYLFFLMYLINKDETEH	4933
RYR3	LRDQQEQVREDMETKCFICGIGNDYFDTTP>H<GFETHTLQEHNLANYLFFLMYLINKDETEH	4836
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H4974R	c.14921A>G	Putative Benign			SIFT: Polyphen: