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Article

Characterization of a pseudoachondroplasia-associated mutation (His587-->Arg) in the C-terminal, collagen-binding domain of cartilage oligomeric matrix protein (COMP).

The Biochemical journal - 15 Jan 2004

Spitznagel Luitgard, Nitsche D Patric, Paulsson Mats, Maurer Patrik, Zaucke Frank

Abstract excerpt

We have introduced a pseudoachondroplasia-associated mutation (His(587)-->Arg) into the C-terminal collagen-binding domain of COMP (cartilage oligomeric matrix protein) and recombinantly expressed the full-length protein as well as truncated fragments in HEK-293 cells. CD spectroscopy revealed only subtle differences in the overall secondary structure of full-length proteins. Interestingly, the mutant COMP did...

Topics

Arginine
Binding Sites
Cartilage Oligomeric Matrix Protein
Cell Line
Collagen
Extracellular Matrix Proteins
Genetic Predisposition to Disease
Glycoproteins
Histidine
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Matrilin Proteins

Mutation

Osteochondrodysplasias

Protein Conformation

Protein Structure, Tertiary

Source

Open in PubMed Open full text

Identifiers

PMID: 14580238
DOI: 10.1042/BJ20031179
PMCID: PMC1223886

Genes

COMP
SDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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Characterization of a pseudoachondroplasia-associated mutation (His587-->Arg) in the C-terminal, collagen-binding domain of cartilage oligomeric matrix protein (COMP).PMID 14580238Read ↗

Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX.Semantic proximity Read ↗

Functional characterization of a rare pathogenic variant c.875G > A, p.(Cys292Tyr) in COMP.Semantic proximity Read ↗

Cartilage oligomeric matrix protein: COMPopathies and beyond.Semantic proximity Read ↗

Delta 469 mutation in the type 3 repeat calcium binding domain of cartilage oligomeric matrix protein (COMP) disrupts calcium binding.Semantic proximity Read ↗

Role of TSP-5/COMP in pseudoachondroplasia.Semantic proximity Read ↗

Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia.Semantic proximity Read ↗

Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group.Semantic proximity Read ↗

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Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia.Semantic proximity Read ↗

Disease-causing mutations in cartilage oligomeric matrix protein cause an unstructured Ca2+ binding domain.Semantic proximity Read ↗

Identification of novel and recurrent mutations in the calcium binding type III repeats of cartilage oligomeric matrix protein in patients with pseudoachondroplasia.Semantic proximity Read ↗

In vitro and in silico analysis of a E559K mutation on cartilage oligomeric matrix protein.Semantic proximity Read ↗

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