Paralogue Annotation for RYR1 residue 4108

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4108
Reference Amino Acid: Q - Glutamine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4108

No paralogue variants have been mapped to residue 4108 for RYR1.

RYR1	DYVTDPRGLISKKDFQKAMDSQKQFSGPEI>Q<FLLSCSEADENEMINCEEFANRFQEPARDI	4138
RYR2	EYDPDGKGVISKRDFHKAMESHKHYTQSET>E<FLLSCAETDENETLDYEEFVKRFHEPAKDI	4094
RYR3	EYDPDGKGIISKKEFQKAMEGQKQYTQSEI>D<FLLSCAEADENDMFNYVDFVDRFHEPAKDI	3990
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q4108E	c.12322C>G	Putative Benign			SIFT: Polyphen:
p.Q4108H	c.12324G>C	Putative Benign			SIFT: Polyphen: