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

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© 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.

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Fig. 3. — Effects of collagen type I sequence variants in α1(I) and α2(I) chains on OI lethality. (A) Overall distribution of sequence variants in collagen I chains that cause lethal OI. (B) Distribution of lethality between glycine substitution and splice site sequence variants in α1(I) and α2(I) chains. (C) Frequencies of lethal outcomes associated with splice site sequence variants along the COL1A1 and COL1A2 genes. (D) Frequencies of lethal outcomes associated with glycine substitutions along the α1(I) and α2(I) chains. (E) Distributions of glycine-substituting amino acids in α1(I) and α2(I) chains that are associated with a lethal outcome. 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 I. COL1A1: https://databases.lovd.nl/shared/genes/COL1A1; COL1A2: https://databases.lovd.nl/shared/genes/COL1A2.