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LH3 ASN223SER


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.
SiMPLOD3-259
Isoenzyme
  Follow the links to gather information about the LH3 isoenzyme
Lysyl Hydroxylase 3 (human) - UniProt - Full Info
Nucleotide mutation
  Follow the links to explore annotated information about the significance of the PLOD3 c.668A>G mutation
PLOD3 NM_001084.4:c.668A>G - NCBI RefSeq
NCBI SNP: rs121434414
NCBI ClinVar: 6643
Mutation type
  Current information about the clinical implications of the mutation
Pathogenic
Disease Phenotype
  Annotated information about disease phenotypes associated to this mutation
Connective tissue disorder (bone fragility with contractures, arterial rupture, and deafness, resembling to osteogenesis imperfecta) Link1 
Clinical Databases
  Link to clinical databases, including OMIM (Online Mendelian Inheritance in Man), Orphanet, ICD-10 (International Statistical Classification of Diseases and Related Health Problems, rev. 10), MeSH (Medical Subject Headings)
OMIM: 612394 Orphanet: ORPHA:300284 ICD-10: Q78.0 MeSH: C567320
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
Salo et al., 2008 - DOI - PubMed
Scietti et al., 2018 - DOI - PubMed
Notes from publications
  A curated excerpt with information about the mutation from the publications found above
The Asn223Ser mutation characterized by one nucleotide transition c.668A/G was first reported by Salo et al. in one male sibling stillborn at 28 weeks gestation. Clinical features are described. The same patient was also characterized by the heterozygous nucleotide deletion c.2071 delT (Cys691Ala-End). Reduced values of glycosyltranferase activity in the serum and in lymphoblastoid cells of the proband was observed. Low PLOD3 protein concentration in lymphoblastoid cells was also described. The recombinant protein with Asn223Ser mutations resulted in higher apparent molecular mass in SDS-PAGE. This difference was not observed after treatment with EndoH (a glycosidase) suggesting that this mutation introduce a new glycosylation site for PLOD3 at Asn221. Scietti et al. mapped the Asn223Ser close to the entrance of the glycosyltranferase catalytic site, suggesting an interference with recognition of acceptor substrate molecules. Structural and biochemical features are described.
Structural Observations
  An evaluation of the possible effects/implications of the mutations on the LH3 molecular structure
Introduces glycosylation near UDP-donor substrate binding site
Related Entries
  A list of related LH/PLOD variants found matching the structural position of the mutation currently visualized
SiMPLOD3-358: LH3 ASN223ASN (SNP)
SiMPLOD3-359: LH3 ASN223LYS (SNP)
SiMPLOD3-385: LH3 ASN223HIS (SNP)
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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