Figure - PMC

Skip to main content

An official website of the United States government

Here's how you know

Here's how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

View full-text article in PMC

. 2022 May 16;15(5):dmm049398. doi: 10.1242/dmm.049398

Search in PMC
Search in PubMed
View in NLM Catalog
Add to search

© 2022. Published by The Company of Biologists Ltd

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution and reproduction in any medium provided that the original work is properly attributed.

PMC Copyright notice

Fig. 2. — Distribution of collagen type I sequence variants in α1(I) and α2(I) chains, type/position of the variants and nature of the substituting amino acid in osteogenesis imperfecta (OI). (A) Overall distribution of sequence variants in collagen I chains. (B) Distribution of glycine substitutions and splice site sequence variations in the α1(I) and α2(I) chains of collagen I. Glycine substitutions are shown in red, splice site mutations are shown in blue. (C) Distribution of splice site sequence variants along the COL1A1 and COL1A2 genes. (D) Distribution of glycine (Gly) substitution sequence variants along the α1(I) and α2(I) chains. (E) Distributions of bulkier amino acids substituting glycine in the α1(I) and α2(I) chains, resulting in structure alterations. These panels summarize data from our new analysis of the public COL1A1 and COL1A2 sequence variant databases. We focus on OI causative variants that affect the triple-helix region of collagen type I. COL1A1: https://databases.lovd.nl/shared/genes/COL1A1; COL1A2: https://databases.lovd.nl/shared/genes/COL1A2.