Paralogue Annotation for RYR1 residue 4765

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4765
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4765

No paralogue variants have been mapped to residue 4765 for RYR1.

RYR1	ERIAELLGMDLATLEITAHNER-KPNPPPG>L<LTWLMSIDVKYQIWKFGVIFTDNSFLYLGW	4795
RYR2	DRISELLGMDKAALDFSDAREKKKPKKDSS>L<SAVLNSIDVKYQMWKLGVVFTDNSFLYLAW	4724
RYR3	ERIAELLGLDKNALDFSPVEET-KA-EAAS>L<VSWLSSIDMKYHIWKLGVVFTDNSFLYLAW	4627
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L4765V	c.14293C>G	Putative Benign			SIFT: Polyphen: