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LH3 LEU136VAL


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.
SiMPLOD3-263
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
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
Wang et al. adopted site-directed mutagenesis approach to identify key residue in PLOD activity. In C. elegans PLOD3 homolog, the mutation Leu124Val (C. elegans sequence - PLOD3 136) reduced the glycosyltranferase activity dramatically. The corresponding mutations in the human protein resulted in increased glycosyltranferase activity.
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).

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