LH1 GLN049END | ||
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. |
SiMPLOD1-83 | |
Isoenzyme Follow the links to gather information about the LH1 isoenzyme |
Lysyl Hydroxylase 1 (human) - UniProt - Full Info | |
Nucleotide mutation Follow the links to explore annotated information about the significance of the PLOD1 c.145C>T mutation |
PLOD1 NM_000302.2:c.145C>T - NCBI RefSeq | |
Mutation type Current information about the clinical implications of the mutation |
Pathogenic | |
LOVD Link to Leiden Open Variation Database (LOVD) |
c.145C>T | |
Disease Phenotype Annotated information about disease phenotypes associated to this mutation |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Link1 Link2 | |
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: 225400 Orphanet: ORPHA:1900 ICD-10: Q79.6 MeSH: C536198 | |
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 049, and may result in misfolding and/or complete absence of the enzyme. This variant is EXTREMELY UNLIKELY to be compatible with a folded LH enzyme. The representation shown in the structure viewer is therefore for mere display purposes and does not refer to an actual predicted existing protein product. |
References Publications (and associated links) describing the mutation |
Yeowell et al., 2000 - DOI - PubMed | Notes from publications A curated excerpt with information about the mutation from the publications found above |
Yeowell et al. identified a mutation (described in their paper as 1119C>T) that produces a premature termination codon in exon 2. |
Structural Observations An evaluation of the possible effects/implications of the mutations on the LH1 molecular structure |
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Last Update An evaluation of the possible effects/implications of the mutations on the LH1 molecular structure |
2021-06-23 08:38:51 | |
The three-dimensional visualization is currently based on the homology model of full-length, dimeric human LH1 (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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