Article
Metaphyseal chondrodysplasia type Schmid mutations are predicted to occur in two distinct three-dimensional clusters within type X collagen NC1 domains that retain the ability to trimerize.
The Journal of biological chemistry - 5 Feb 1999
Marks D S, Gregory C A, Wallis G A, Brass A, Kadler K E, Boot-Handford R P
Abstract excerpt
Metaphyseal chondrodysplasia type Schmid (MCDS) is caused by mutations in COL10A1 that are clustered in the carboxyl-terminal non-collagenous (NC1) encoding domain. This domain is responsible for initiating trimerization of type X collagen during biosynthesis. We have built a molecular model of t...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- Biopolymers
- Collagen
- DNA Primers
- Humans
- Models, Molecular
- Molecular Sequence Data
- Mutation
- Osteochondrodysplasias
- Recombinant Proteins
- Sequence Homology, Amino Acid