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Table 2 Sequence changes in BER genes in familial colorectal cancer cases and controls

From: Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1genes in familial colorectal cancer predisposition

Gene

Exon

Nucleotide change

Amino acid change

No. of heterozygote cases (n = 94)

No. of heterozygote controls (n = 188)

DbSNP database entry

NEIL1

IVS1

T434+2C

 

1

 

rs5745908

NEIL2

IVS1

T138+25C

 

>10

 

rs804269

 

IVS1

C138+35T

 

>10

 

rs804268

 

2

G308A

R103Q

1

 

rs8191613

 

2

C367A

P123T

1

0

 
 

3

A564G

 

>10

 

rs8191642

 

IVS3

C689-13T

 

>10

 

rs8191663

 

4

G770T

R257L

1

 

rs8191664

 

3' UTR

C999+21T

 

>10

 

rs1534862

 

3'UTR

999+34 delC

 

>10

 

rs8191667

MPG

5' UTR

1–27 insT

 

1

 

rs3176380

 

2

C147G

 

3

 

rs2259275

 

3

C342G

 

1

  

TDG

IVS2

A166+12G

 

4

 

rs3829300

 

IVS2

G167-9A

 

>10

 

rs3751209

 

IVS2

G167-19C

 

1

  
 

3

A196G

R66G

1

0

 
 

10

G1099 A

V367M

>10

 

rs2888805

UNG

2

C262T

R88C

1

0

 
 

2

G246C

 

0

1

 
 

IVS4

533–25

 

>10

 

rs3219235

 

IVS6

801+20 delTTTT

 

>10

  

SMUG1

1

G44T

G15V

1

 

rs2233920