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. 2017 May 12;12(5):e0176466. doi: 10.1371/journal.pone.0176466

Fig 5. Location of mutations in COL1A1 and COL1A2 in individuals with dentinogenesis imperfecta (DGI) in both dentitions.

Fig 5

Distribution of missense mutations, from N- to C-terminal, resulting in glycine substitutions in COL1A1 and presence of DGI in the deciduous and permanent dentition (n = 7). In two children mutations were found in intron 32 (c.2235+1G>A); and in one in intron 21 (c.1197+5G>A). Distribution of missense mutations, from N- to C-terminal, resulting in glycine substitutions in COL1A2 and presence of DGI in the deciduous and permanent dentition (n = 8). In one individual a mutation was found in intron 43 (c.2835+1G>A). Affected residues are numbered from translation initiation.