Article
An alpha 1(II) Gly913 to Cys substitution prevents the matrix incorporation of type II collagen which is replaced with type I and III collagens in cartilage from a patient with hypochondrogenesis.
American journal of medical genetics - 3 May 1996
Mundlos S, Chan D, McGill J, Bateman J F
Abstract excerpt
A heterozygous mutation in the COL2A1 gene was identified in a patient with hypochondrogenesis. The mutation was a single nucleotide transition of G3285T that resulted in an amino acid substitution of Cys for Gly913 in the alpha 1(II) chain of type II collagen. This amino acid change disrupted th...
Topics
- Adult
- Amino Acid Sequence
- Cartilage
- Cloning, Molecular
- Collagen
- Cysteine
- Extracellular Matrix
- Female
- Glycine
- Heterozygote
- Humans
- Infant, Newborn
- Male
- Molecular Sequence Data
- Osteochondrodysplasias
- Phenotype
- Point Mutation
- Polymerase Chain Reaction