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Table 1 Mutational spectrum of the COL1A1 and the COL1A2 genes among Estonian OI patients

From: Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients

No Patient ID Gene Mutation Exon Mutation type Protein alteration Sillence OI type
1 EE01# COL1A2 c.1630G>GT* Exon 28 Missense p.Gly544Cys III
2 EE02 COL1A1 c.1821 + 1G>GA Intron 26 Splice site III
3 EE03 COL1A1 c.1897G>GT* Exon 26 Nonsense p.Glu633* IV
4 EE04 COL1A1 c.750 + 2T>TA* Intron 10 Splice site IV
5 EE05 COL1A1 c.1821 + 1G>GA Intron 26 Splice site I
6 EE07# COL1A1 c.2317G>T* Exon 33_34 Missense p.Gly773Cys II
7 EE08 COL1A1 c.3217G>GA* Exon 45 Missense p.Gly1073Ser III
8 EE09 COL1A1 c.1155 + 2T>TG* Intron 17 Splice site I
9 EE10 COL1A1 c.1128_hetdelT Exon 17 Frameshift p.Gly377Alafs*164 I
10 EE11# COL1A1 c.3235G>GA Exon 45 Missense p.Gly1079Ser I
11 EE13 COL1A1 c.2089C>CT Exon 31 Nonsense p.Arg697* IV
12 EE14# COL1A1 c.904-9G>GA Intron 13 Splice site I
13 EE15 COL1A2 c.1009G>GA Exon 19 Missense p.Gly337Ser III
14 EE16# COL1A2 c.2324G>GA Exon 38 Missense p.Gly775Glu III
15 EE17# COL1A1 c.3045 + 1G>GA Intron 42 Splice site IV
16 EE18 COL1A1 c.505G>GA* Exon 6 Missense p.Glu169Lys I
17 EE19 COL1A1 c.299-1G>GC* Intron 3 Splice site IV
18 EE20 COL1A2 с.937-3С>CT Intron 18 Splice site I
19 EE21 COL1A1 c.3262G>GT* Exon 46 Nonsense p.Gly1088* IV
20 EE22 COL1A1 c.3262G>GT* Exon 46 Nonsense p.Gly1088* I
21 EE24 COL1A1 c.1767 + 5G>GA* Intron 25 Splice site IV
22 EE25 COL1A1 c.1354-2A>AG Intron 20 Splice site I
23 EE27# COL1A1 c.3208-1G>GA* Intron 44 Splice site I
24 EE29# COL1A2 c.865G>AG Exon 17 Missense p.Gly289Ser III
25 EE30 COL1A2 c.2026-1_2031het dup* Intron-Exon 34 Splice site, frameshift III/IV
26 EE31# COL1A1 c.1081C>CT Exon 17 Nonsense p.Arg361* I
  1. Patients with de novo mutations and without OI history in the family are marked with an octothorp (#). Novel mutations unreported in the collagen type I variant database (http://www.le.ac.uk/ge/collagen/) are marked with an asterisk (*). In cases of heterozygous mutation, both the wild type and the mutated allele are indicated after an arrow (>)