Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships.

doi:10.1042/bj3070823

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Article

Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships.

The Biochemical journal - 1 May 1995

Bonaventure J, Cohen-Solal L, Ritvaniemi P, Van Maldergem L, Kadhom N, Delezoide A L, Maroteaux P, Prockop D J, Ala-Kokko L

Abstract excerpt

Two different mutations were found in two unrelated probands with lethal chondrodysplasias, one with achondrogenesis type II and the other with the less severe phenotype of hypochondrogenesis. The mutations in the COL2A1 gene were identified by denaturing gradient gel electrophoresis analysis of genomic DNA followed by dideoxynucleotide sequencing and restriction site analysis. The proband with achondrogenesis...

Topics

Amino Acid Sequence
Aspartic Acid
Base Sequence
Bone Diseases, Developmental
Cartilage
Cells, Cultured
Collagen
Collagen Diseases
Drug Stability
Electrophoresis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Exons

Female

Genotype

Glycine

Hot Temperature

Humans

Molecular Sequence Data

Mutation

Source

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Identifiers

PMID: 7741714
DOI: 10.1042/bj3070823
PMCID: PMC1136723

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7741714-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships.PMID 7741714Read ↗

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.Semantic proximity Read ↗

Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis.Semantic proximity Read ↗

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