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Table 2 Summary of ABCC1 variants detected during scanning by HRM

From: Genetic variation of the ABC transporter gene ABCC1 (Multidrug resistance protein 1 – MRP1) in the Polish population

Exon scanned by HRM

dbSNP ID

Variant position NM_004996.3:

Intron/amino acid residue NP_004987.2:

Observed genotypesa, b (n)

HWE exact test P-valuec

MAFd

R/R

R/V

V/V

2

rs8187843

c.225 + 26G > A

Intron

164

25

0

1

(A) 0.066

4

rs587783373*

c.352-79G > A

Intron

185

1

0

1

(A) 0.003

4

rs4148337

c.352-66 T > C

Intron

15

80

91

0.727

(T) 0.296

5

rs483352860*

c.596C > T

p.Ser199Leu

186

1

0

1

(T) 0.003

6

rs8187846

c.677 + 17C > T

Intron

188

1

0

1

(T) 0.003

7

rs483352864*

c.809 + 16C > T

Intron

188

1

0

1

(T) 0.003

7

rs45609533

c.809 + 31G > T

Intron

183

5

0

1

(T) 0.013

7

rs903880

c.809 + 54C > A

Intron

112

65

11

0.684

(A) 0.231

7

rs246232

c.809 + 64C > G

Intron

84

90

14

0.174

(G) 0.314

8

rs546943313

c.810-73C > T

Intron

187

1

0

1

(T) 0.003

8

rs200194736

c.814C > T

p.Pro272Ser

187

1

0

1

(T) 0.003

8

rs2230669 

c.816G > A

p.Pro272=

172

16

0

1

(A) 0.043

8

rs246221

c.825 T > C

p.Val275=

84

92

12

0.059

(C) 0.309

8

rs587783372*

c.855G > A

p.Pro285=

187

1

0

1

(A) 0.003

9

rs35587

c.1062 T > C

p.Asn354=

78

91

16

0.185

(C) 0.332

9

rs35588

c.1218 + 8A > G

Intron

82

91

16

0.245

(G) 0.327

9

rs483352877*

c.1218 + 9C > T

Intron

188

1

0

1

(T) 0.003

10

rs60782127

c.1299G > T

p.Arg433Ser

186

2

0

1

(T) 0.005

12

rs17265551

c.1677 + 56C > T

Intron

162

27

0

0.604

(T) 0.072

13

rs35604

c.1678-37G > A

Intron

2

45

142

0.745

(G) 0.130

13

rs483352863*

c.1678-34G > A

Intron

188

1

0

1

(A) 0.003

13

rs35605

c.1684 T > C

p.Leu562=

2

45

142

0.745

(T) 0.130

13

rs8187858

c.1704C > T

p.Tyr568=

157

31

1

1

(T) 0.088

14

rs112282109

c.1898G > A

p.Arg633Gln

187

1

0

1

(A) 0.003

16

rs8187863

c.2001C > T

p.Ser667=

187

1

0

1

(T) 0.003

16

rs45511401

c.2012G > T

p.Gly671Val

161

25

2

0.296

(T) 0.077

17

rs4148356

c.2168G > A

p.Arg723Gln

181

9

0

1

(A) 0.024

19

rs45607032

c.2461-39_2461-38delAT

Intron

179

9

0

1

(delAT) 0.024

19

rs2074087

c.2461-30C > G

Intron

0

44

144

0.083

(C) 0.117

19

rs45492500

c.2461-27G > A

Intron

172

14

2

0.056

(A) 0.048

21

rs11075296

c.2871 + 26C > T

Intron

0

0

189

1

-

22

rs768191257

c.2876A > G

p.Lys959Arg

187

1

0

1

(G) 0.003

22

rs3851716

c.3079 + 10G > A

Intron

0

0

188

1

-

22

rs34794353

c.3079 + 24C > T

Intron

187

1

0

1

(T) 0.003

22

rs3887893

c.3079 + 62 T > C

Intron

67

96

25

0.358

(C) 0.388

23

rs191017838

c.3171G > A

p.Leu1057=

187

2

0

1

(A) 0.005

23

rs199773531

c.3196C > T

p.Arg1066Trp

188

1

0

1

(T) 0.003

25

rs41278168

c.3591-5C > T

Intron

187

1

0

1

(T) 0.003

27

rs200922662

c.3886C > T

p.Arg1296Trp

187

1

0

1

(T) 0.003

27

rs201533167

c.3901C > T

p.Arg1301Cys

187

1

0

1

(T) 0.003

28

rs2230671

c.4002G > A

p.Ser1334=

102

68

18

0.202

(A) 0.277

28

rs188980645

c.4093G > A

p.Asp1365Asn

187

1

0

1

(A) 0.003

29

rs212087

c.4126-45G > A

Intron

62

85

42

0.239

(A) 0.447

30

rs212088

c.4487 + 18G > A

Intron

136

47

5

0.775

(A) 0.148

31

rs587783374*

c.4551G > A

p.Gln1517=

186

1

0

1

(A) 0.003

31

rs373453875

c.*3C > G

3’ UTR

186

1

0

1

(G) 0.003

  1. *Novel polymorphic variants detected in this study. aNumber of genotypes detected during this study, R – reference allele, V – variant allele. bTotal number of examined samples was 190, however during scanning single samples were excluded because of accidental problems with amplification during PCR and hence, total number of genotypes is not equal precisely 190. cP-value is consistent with Hardy-Weinberg equilibrium if P > 0.001. dMinor allele shown in brackets with its frequency. Bold variants signifies the ones which were validated by genotyping results
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BMC Genomic Data

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