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LH3 LEU715ARG


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.
SiMPLOD3-288
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
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
-
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
Scietti et al., 2018 - DOI - PubMed
Notes from publications
  A curated excerpt with information about the mutation from the publications found above
To identify the physiological dimeric interface Scietti et al. introduced the Leu715Arg mutation in PLOD3. This mutation caused slightly increased retention volumes in size-exclusion chromatography and abolished lysyl-hydroxylase catalytic activity.
Structural Observations
  An evaluation of the possible effects/implications of the mutations on the LH3 molecular structure
Involved in the LH-LH dimerization interface
Related Entries
  A list of related LH/PLOD variants found matching the structural position of the mutation currently visualized
SiMPLOD2-335: LH2a LEU714ASP (for biochemistry)
SiMPLOD3-287: LH3 LEU715ASP (for biochemistry)
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):

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