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Table 1 COL1A1 mutations in unrelated Vietnamese OI patients

From: Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta

No

Patient ID

COL1A1 mutation

Exon

Mutation type

Protein alteration

Sillence OI type

1

VN01

c.2461G > GA

Exon 37

Missense

p.Gly821Ser

I

c.2005G > GA*

Exon 30

Missense

p.Ala669Thr,

2

VN02

c.1200 + 1G > GT*

Intron 18

Splice site

–

I

3

VN05

c.1072delC, het*

Exon 17

Frameshift

p.Glu358Lysfs*26

III

4

VN13

c.4391 T > C

Exon 52

Missense

p.Leu1464Pro

I

5

VN18

c.103 + 2 T > TC*

Intron 1

Splice site

–

IV

6

VN21

c.4352dupA, het.*

Exon 52

Nonsense Frameshift

p.Asp1451Glufs*100

IV

7

VN26

c.3226G > GA

Exon 45

Missense

p.Gly1076Ser

IV

8

VN34

c.2461G > GA

Exon 37

Missense

p.Gly821Ser,

IV

9

VN38

c.959G > GA*

Exon 15

Missense

p.Gly320Asp

IV

10

VN39

c.630delG, het*

Exon 8

Frameshift

p.Glu210Aspfs*3

III

11

VN40

c.2461G > GA

Exon 37

Missense

p.Gly821Ser

IV

12

VN41

c.1102G > GA

Exon 17

Missense

p.Gly368Ser

IV

13

VN49

c.2461G > GA

Exon 37

Missense

p.Gly821Ser

IV

14

VN50

c.932G > GT*

Exon 14

Missense

p.Gly311Val

III

15

VN51

c.949G > GA*

Exon 14

Missense

p.Gly317Ser

IV

16

VN52

c.2523delT, het.

Exon 37

Frameshift Nonsense

p.Gly842Alafs*266

I

17

VN58

c.2236-2A > AG*

Intron 32

Splice site

-

I

18

VN66

c.2596G > AG*

Exon 38

Missense

p.Gly866Ser

III

19

VN68

c.2299G > GA

Exon 33/34

Missense

p.Gly767Ser

I

20

VN70

c.2281G > GA*

Exon 33/34

Missense

p.Gly761Ser

IV

21

VN71

c.1002 + 2 T > C

Intron 15

Splice site

–

IV

22

VN72

c.1165G > GT

Exon 18

Missense

p.Gly389Cys

I

23

VN76

c.1165G > GA

Exon 18

Missense

p.Gly389Ser

III

24

VN78

c.3766G > GA

Exon 49

Missense

p.Ala1256Thr

I

25

VN86

c.977G > AG

Exon 15

Missense

p.Gly326Asp

I

26

VN88

c.2005G > GA*

Exon 30

Missense

p.Ala669Thr

IV

27

VN89

c.2005G > GA*

Exon 30

Missense

p.Ala669Thr

IV

28

VN91

c.1299 + 1G > C

Intron 19

Splice site

–

IV

29

VN92

c.2299G > GA

Exon 33/34

Missense

p.Gly767Ser

III

30

VN95

c.590G > GA

Exon 8

Missense

p.Gly197Asp

I

31

VN99

c.103 + 2 T > TC*

Intron 1

Splice site

–

I

32

VN104

c.3369 + 1G > GC*

Intron 46

Splice site

–

I

33

VN106

c.1350G > GC*

Exon 20

Missense

p.Glu450Asp

III

  1. Mutations unreported in the Dalgliesh’s OI database are marked with an asterisk (*). In the case of heterozygous mutation, both the wild type and mutated alleles are indicated after an arrow (>)
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Human Genomics

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