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Table 1 Ext1 and Ext2 mutations in Japanese MO families

From: Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas

Familiy number

The number of participants

Gene

The number of the exon

Mutation

Amino acid change

Nucleotide change

Novel/Reported

Familial/Sporadic

MO-1

4

EXT2

Exon6

Missense

p.C339F

c.1016G > T

R

F

MO-2

4

EXT1

Exon6

Frame shift

p.T488fs

c.1462AΔ1nt

N

F

MO-3

3

EXT1

Exon6

Frame shift

p.T490fs

c.1469TΔ1nt

R

F

MO-4

2

EXT1

Exon8

Frame shift

p.F550fs

c.T1650Δ1nt

N

F

MO-5

1

a-

-

-

-

-

-

F

MO-6

1

EXT1

Exon5

Frame shift

p.R433fs

c.A1297Δ2nt

R

F

MO-7

1

EXT2

Exon 5

Missense

p.R297H

c.890G > A

N

F

MO-8

2

EXT1

Exon1

Nonsense

p.Q27X

c.79C > T

N

F

MO-9

2

-

-

-

-

-

-

F

MO-10

1

-

-

-

-

-

-

F

MO-11

1

EXT1

Exon2

Missense

p.R341S

c.1023G > C

R

F

EXT2

Exon2

Missense

p.R128W

c.382C > T

R

F

MO-12

2

-

-

-

-

-

-

F

MO-13

1

EXT2

Exon8

Nonsense

p.W429X

c.1286G > A

R

F

MO-14

1

EXT1

Exon6

Frame shift

p.L490fs

c.1469TΔ1nt

R

F

MO-15

1

-

-

-

-

-

-

F

MO-16

1

EXT2

Exon3

Nonsense

p.R182X

c.544C > T

R

F

MO-17

2

-

-

-

-

-

-

F

MO-18

1

-

-

-

-

-

-

F

MO-19

1

-

-

-

-

-

-

S

MO-20

1

EXT2

Exon5

Insertion

p.V282ins

c.846A insertion

N

S

MO-21

2

EXT1

Exon2

Missense

p.R340H

c.1019G > A

R

F

MO-22

1

-

-

-

-

-

-

F

MO-23

2

-

-

-

-

-

-

F

MO-24

1

EXT2

Exon5

Missense

p.R299H

c.896G > A

R

F

MO-25

1

EXT1

Exon5

Frame shift

p.P466fs

c.1395del del.

R

F

EXT1

Exon8

Missense

p.F550S

c.1649T > C

N

F

MO-26

2

-

-

-

-

-

-

F

MO-27

1

EXT2

Exon2

Frame shift

p.F30fs

c.88TΔ5nt

N

F

MO-28

1

EXT1

Exon2

Missense

p.R340L

c.1019G > T

R

F

MO-29

2

EXT1

Exon3

Missense

p.C355Y

c.1064G > A

N

F

MO-30

1

-

-

-

-

-

-

F

MO-31

2

EXT1

Exon1

Nonsense

p.W304X

c.912G > A

R

F

MO-32

3

EXT1

Exon9

Nonsense

p.W612X

c.1797G > A

R

F

MO-33

2

EXT1

Exon1

Frame shift

p.L26fs

c.78 T (Δ1nt)

N

F

MO-34

2

-

-

-

-

-

-

F

MO-35

1

EXT2

Intron7

Splicing mutation

-

c.(1173 + 1)G > A

R

F

MO-36

1

EXT2

Exon3

Nonsense

p.R182X

c.544C > T

R

F

MO-37

2

EXT1

Exon1

Nonsense

p.Q165X

c.493C > T

R

F

MO-38

1

-

-

-

-

-

-

F

MO-39

1

-

-

-

-

-

-

S

MO-40

1

EXT1

Exon2

Missense

p.R340H

c.1019G > A

R

F

MO-41

2

-

-

-

-

-

-

F

MO-43

2

EXT1

Exon2

Missense

p.R341S

c.1023G > C

R

F

MO-44

2

EXT2

Exon3

Missense

p.A202V

c.605C > T

R

F

EXT1

Exon1

Nonsense

p.G24X

c.70G > T

N

F

MO-45

4

EXT1

Exon1

Frame shift

p.R314fs

c.941G (+2nt)

N

F

MO-46

1

EXT1

Exon1

Nonsense

p.E74X

c.220G > T

N

F

MO-47

1

EXT2

Exon2

Missense

p.L152R

c.455T > G

R

F

EXT1

Exon1

Missense

p.Q150R

c.499A > G

N

F

MO-48

1

EXT1

Exon1

Frame shift

p.T297fs

c.888CΔ1nt

N

F

MO-49

4

-

-

-

-

-

-

F

MO-50

2

EXT2

Exon7

Nonsense

p.Y374X

c.1122C > A

N

F

MO-51

1

EXT2

Exon2

Frame shift

p.S121fs

c.361TΔ2nt

R

F

MO-52

2

EXT2

Exon4

Missense

p.D227N

c.679G > A

R

F

MO-53

1

EXT1

Exon3

Frame shift

p.M359fs

Δ8nt

N

F

MO-54

1

-

-

-

-

-

-

F

MO-55

1

-

-

-

-

-

-

F

MO-56

1

EXT1

Exon10

Nonsense

p.Q685X

c.2053C > T

R

F

MO-57

2

EXT1

Exon1

Frame shift

p.K321fs

c.960GΔ1nt

N

F

MO-58

1

EXT2

Exon6

Missense

p.P341T

c.1021C > A

N

F

MO-59

1

EXT1

Exon1

Missense

p.I221V

c.661A > G

N

F

EXT1

Exon5

Frame shift

p.P466fs

c.1395TΔ1nt

R

F

MO-60

2

EXT1

Exon2

Missense

p.R340H

c.1019G > A

R

F

MO-61

2

EXT1

Exon1

Frame shift

p.K218fs

Δ14nt

R

F

MO-65

1

-

-

-

-

-

-

F

MO-66

1

EXT1

Exon1

Frame shift

p.K218fs

Δ18nt

R

F

MO-67

1

-

-

-

-

-

-

S

MO-68

1

-

-

-

-

-

-

F

MO-70

1

EXT1

IVS9

Splicing mutation

 

intron/exon10 G > A

N

F

MO-72

2

EXT1

Exon1

Nonsense

p.E139X

c.415G > T

N

F

MO-73

1

EXT2

Exon5

Missense

p.R299H

c.896G > A

R

F

MO-74

3

-

-

-

-

-

-

F

MO-75

2

EXT2

Exon4

Missense

p.D227N

c.679G > A

R

F

MO-76

1

-

-

-

-

-

-

F

MO-77

1

EXT1

IVS5

Splicing mutation

 

exon5/intron G > T

N

F

  1. a- indicates no mutations detected