Paralogue Annotation for RYR1 residue 4761

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4761
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4761

No paralogue variants have been mapped to residue 4761 for RYR1.

RYR1	IYGRERIAELLGMDLATLEITAHNER-KPN>P<PPGLLTWLMSIDVKYQIWKFGVIFTDNSFL	4791
RYR2	FYGRDRISELLGMDKAALDFSDAREKKKPK>K<DSSLSAVLNSIDVKYQMWKLGVVFTDNSFL	4720
RYR3	LYGAERIAELLGLDKNALDFSPVEET-KA->E<AASLVSWLSSIDMKYHIWKLGVVFTDNSFL	4623
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P4761L	c.14282C>T	Putative Benign		rs373919284	SIFT: tolerated Polyphen: