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 |
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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 |
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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). 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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