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LH3 ARG520END


SiMPLOD ID
  This is the unique identifier for this mutation in the SiMPLOD database. Please use this identifier when linking information described in SiMPLOD about this mutation.
SiMPLOD3-294
Isoenzyme
  Follow the links to gather information about the LH3 isoenzyme
Lysyl Hydroxylase 3 (human) - UniProt - Full Info
Mutation type
  Current information about the clinical implications of the mutation
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)
Evidence at
protein level
  Based on available structural and biochemical information, a statement about the existence of an LH enzyme variant bearing the described mutation is provided
Warning: this variant incorporates a premature truncation of the aminoacid sequence at residue 520, and may result in misfolding and/or complete absence of the enzyme.

This variant EXISTS at the protein level: published experimental data support its existence as protein product.
LH Activity
  When available, biochemical data describing the lysyl hydroxylase activity of the mutant are reported
No experimental data available
GT/GGT Activity
  When available, biochemical data describing the galactosyltransferase (GT) and glucosylgalactosyltransferase (GGT) activities of the mutant are reported
+
References
  Publications (and associated links) describing the mutation
Wang et al., 2002 - DOI - PubMed
Notes from publications
  A curated excerpt with information about the mutation from the publications found above
To determine the PLOD3 region involved in glycosyltransferase activity Wang et al. produced several C-terminal deletion constructs. Protein were produced in E. Coli and insect cells and the activity was measured. The resulting proteins had reduced, but not eliminated glycosyltransferase activity, whereas were completely lacking lysyl-hydroxylase activity.
Structural Observations
  An evaluation of the possible effects/implications of the mutations on the LH3 molecular structure
Related Entries
  A list of related LH/PLOD variants found matching the structural position of the mutation currently visualized
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-185: LH1 SER510SER (Likely benign)
SiMPLOD1-325: LH1 delta491-550 (Pathogenic)
Last Update
  An evaluation of the possible effects/implications of the mutations on the LH3 molecular structure
2021-06-23 08:38:51


The three-dimensional visualization is currently based on the homology model of full-length, dimeric human LH3 (generated using the crystal structure of full-length human LH3 as template).

You may select a different PDB model file to visualize the mutation(s) using the drop-down menu below (page will refresh):

Thank you for using SiMPLOD - Created by Fornerislab@UniPV  - Last curated update: 1970-01-01 00:00:00
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