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Article

Local amino acid sequence patterns dominate the heterogeneous phenotype for the collagen connective tissue disease Osteogenesis Imperfecta resulting from Gly mutations.

Journal of structural biology - 1 Oct 2015

Xiao Jianxi, Yang Zhangfu, Sun Xiuxia, Addabbo Rayna, Baum Jean

Abstract excerpt

Osteogenesis Imperfecta (OI), a hereditary connective tissue disease in collagen that arises from a single Gly → X mutation in the collagen chain, varies widely in phenotype from perinatal lethal to mild. It is unclear why there is such a large variation in the severity of the disease considering the repeating (Gly-X-Y)n sequence and the uniform rod-like structure of collagen. We systematically evaluate the...

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Topics

Amino Acid Sequence
Collagen Type I
Collagen Type I, alpha 1 Chain
Genetic Association Studies
Humans
Models, Molecular

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Mutation, Missense

Osteogenesis Imperfecta

Phenotype

Sequence Analysis, Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 25980613
DOI: 10.1016/j.jsb.2015.05.002
PMCID: PMC4898063

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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