Paralogue Annotation for RYR1 residue 973

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 973
Reference Amino Acid: H - Histidine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 973

No paralogue variants have been mapped to residue 973 for RYR1.

RYR1	EKAEDNLKKTKLPKTYMMSNGYKPAPLDLS>H<VRLTPAQTTLVDRLAENGHNVWARDRVGQG	1003
RYR2	EHAEDKVKKMKLPKNYQLTSGYKPAPMDLS>F<IKLTPSQEAMVDKLAENAHNVWARDRIRQG	1015
RYR3	PAAEEDLKKVKLPKNYMMSNGYKPAPLDLS>D<VKLLPPQEILVDKLAENAHNVWAKDRIKQG	1002
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H973Q	c.2919C>G	Putative Benign			SIFT: Polyphen: