Genomic Structure and Variation of Nuclear Factor (Erythroid-Derived 2)-Like 2

Table 5

Mouse upstream and exon variations of Nfe2l2 locus in 17 inbred strains. Reference sequence is C57BL/6J (B6, strain 1) genome (GI: 149338249, 75547698–75513576). SNP allele and genotypes are shown as chromosome contig sequence. Strains 2: 129S1/SvlmJ, 3: A/J, 4: AKR/J, 5: BALB/cJ, 6: C3H/HeJ, 7: C57BL6/NJ, 8: CAST/EiJ, 9: CBA/J, 10: DBA/2J, 11: FVB/NJ, 12: LP/J, 13: NOD/ShiLtJ, 14: NZO/HILtJ, 15: PWK/PhJ, 16: SPRET/EiJ, 17: WSB/EiJ.

SNP ID

Chr2 location; (bp)

SNP allele

Region

Location from TSS/reversed SNP allele

Consequences

Strains

1; B6

2

3

4

5

6

7

8

9

10

11

12

13

14

15

16

17

rs256608517

75705565

G/A (C/T)

5′Flanking

−924

NC

G

G

G

G

G

G

G

G

G

G

G

G

G

G

A

A

G

rs47274959

75705562

A/T (T/A)

5′Flanking

−921

NC

A

T

T

A

T

T

A

A

T

T

A

T

A

T

T

T

A

rs216940398

75705554–75705555

T add (A add)

5′Flanking

−913 : −914

NC

CG

rs239114134

75705540

C/T (G/A)

5′Flanking

−899

NC

C

T

T

C

T

T

C

C

T

T

C

T

C

T

C

T

C

rs46461765

75705528

T/G (A/C) ?oA/C?

5′Flanking

−887

NC

T

G

G

T

G

G

T

T

G

G

T

G

T

G

G

G

T

rs51449853

75705525

C/A (G/T)

5′Flanking

−884

NC

C

A

A

C

A

A

C

C

A

A

C

A

C

A

C

C

C

rs249093111

75705512

C/T (G/A)

5′Flanking

−871

NC

C

T

T

C

T

T

C

C

T

T

C

T

C

T

T

T

C

rs263745200

75705510

C/G (G/C)

5′Flanking

−869

NC

G

G

G

G

G

G

G

G

G

G

G

G

G

G

C

G

G

rs45651867

75705498

T/G (A/C)

5′Flanking

−857

NC

T

G

G

T

G

G

T

T

G

G

T

G

T

G

G

G

T

rs219997531

75705495

G/A (C/T)

5′Flanking

−854

NC

G

G

G

G

G

G

G

G

G

G

G

G

G

G

G

A

G

rs251918379

75705451

T/A (A/T)

5′Flanking

−810

NC

T

T

T

T

T

T

T

T

T

T

T

T

T

T

T

A

T

rs27978306

75705449

T/A (A/T)

5′Flanking

−808

NC

T

A

A

T

A

A

T

T

A

A

T

A

T

A

T

T

T

rs216087412

75705429

T/G (A/C)*

5′Flanking

−788

NC

T*

T*

T*

T*

T*

T*

T*

T*

T*

T*

T*

T*

T*

T*

G

T*

T*

rs261229914

75705423–75705424

AG del (CT del)

5′Flanking

−783 : −784

NC

AG

rs27978307

75705400

C/T (G/A)

5′Flanking

−759

NC

C

C

C

C

C

C

C

C

C

C

C

C

C

C

T

C

C

rs243167395

75705359

G/A (C/T)

5′Flanking

−718

NC

G

G

G

G

G

G

G

G

G

G

G

G

G

G

G

A

G

rs27978308

75705307

G/A (C/T)

5′Flanking

−666

NC

G

G

G

G

G

G

G

G

G

G

G

G

G

G

A

G

G

rs254744098

75705294

A/T (T/A)

5′Flanking

−653

NC

A

A

A

A

A

A

A

A

A

A

A

A

A

A

A

T

A

rs228133419

75705179

G/T (C/A)

5′Flanking

−538

NC

G

G

G

G

G

G

G

G

G

G

G

G

G

G

G

T

G

rs214719520

75705111

G/A (C/T)

5′Flanking

−470

NC

G

G

G

G

G

G

G

G

G

G

G

G

G

G

G

A

G

rs244087730

75705101

G/A (C/T)

5′Flanking

−460

NC

G

G

G

G

G

G

G

G

G

G

G

G

G

G

G

A

G

rs227781699

75705081

C/G (G/C)

5′Flanking

−440

NC

C

C

C

C

C

C

C

C

C

C

C

C

C

C

G

C

C

rs257870353

75705067

C/T (G/A)

5′Flanking

−426

NC

C

C

C

C

C

C

C

C

C

C

C

C

C

C

T

C

C

rs244877440

75705022

A/G (T/C)

5′Flanking

−381

NC

A

A

A

A

A

A

A

A

A

A

A

A

A

A

A

G

A

rs234628138

75704973

A/C (T/G)

5′Flanking

−332

NC

A

A

A

A

A

A

A

A

A

A

A

A

A

A

A

C

A

rs247275247

75704961

G/A (C/T)

5′Flanking

−320

NC

G

G

G

G

G

G

G

G

G

G

G

G

A

G

G

G

G

rs247519047

75704922

G del (C del)

5′Flanking

−281

NC

G

rs27978309 (rs51915758)

75704887

G/A/C (C/T/G)

5′Flanking

−246

NC

G

A

A

G

A

A

G

G

A

A

G

A

G

A

C

C

G

rs218139102

75704879

C/A (G/T)

5′Flanking

−238

NC

C

C

C

C

C

C

C

C

C

C

C

C

C

C

A

C

C

rs251990355

75704870

T/C (A/G)

5′Flanking

−229

NC

T

T

T

T

T

T

T

T

T

T

T

T

T

T

T

C

T

rs238746955

75704794

A/G (T/C)

5′Flanking

−153

NC

A

A

A

A

A

A

A

A

A

A

A

A

A

A

G

A

A

rs221664405

75704786

A/G (T/C)

5′Flanking

−145

NC

A

A

A

A

A

A

A

A

A

A

A

A

A

A

A

G

A

rs217054035

75704766–75704767

GAA add (TTC add)

5′Flanking

−125 : −126

NC

GA

rs248182931

75704759–75704760

G add (C add)

5′Flanking

−118 : −119

NC

AG

rs217197904

75704744

G/A (C/T)

5′Flanking

−103

(+)Sp1[23]

G

A

A

G

A

A

G

G

A

A

G

A

A

A

G

G

A

rs264493649

75704704

G del (C del)

5′Flanking

−63

NC

G

rs240481112

75704682

C/T (G/A)

5′Flanking

−41

NC

C

C

C

C

C

C

C

C

C

C

C

C

C

C

C

T

C

rs27978310

75704617

A/G (T/C)

UTR-5

25

NC

A

A

A

A

A

A

A

A

A

A

A

A

A

A

G

G

A

rs27978311

75704610

C/G (G/C)

UTR-5

32

NC

G

G

G

G

G

G

G

G

G

G

G

G

G

G

G

G

C

rs27978312

75704605

G/A (C/T)

UTR-5

37

NC

G

A

A

G

A

A

G

G

A

A

G

A

G

A

G

G

G

rs214784220

75704499

A/G (T/C)

UTR-5

143

NC

A

A

A

A

A

A

A

A

A

A

A

A

A

A

G

G

A

rs244146318

75704498

G/T (C/A)

UTR-5

144

NC

G

G

G

G

G

G

G

G

G

G

G

G

G

G

G

T

G

rs27978313

75704497

G/C (C/G)

UTR-5

145

NC

G

C

C

G

C

C

G

C

C

C

G

C

C

C

C

C

C

rs215431944

75704493

C/T (G/A)

UTR-5

149

NC

C

C

C

C

C

C

C

C

C

C

C

C

C

C

T

C

C

rs257015697

75704449

G/A (C/T)

UTR-5

193

NC

G

G

G

G

G

G

G

G

G

G

G

G

G

G

G

A

G

rs252234782

75704419

G/T (C/A)

UTR-5

223

NC

G

rs13460861

75679262

A/G (T/C)

Exon2

446

Cns F71L

A

G

G

A

G

G

A

G

G

G

A

G

A

G

G

G

G

rs13460859

75679202

G/A (C/T)*

Exon2

506

Cs H91=

G

A

A

G

A

A

G

G

A

A

G

A

G

A

G

G

G

rs27978436

75679187

G/A (C/T)*

Exon2

521

Cs T96=

G

G

G

G

G

G

G

A

G

G

G

G

G

G

A

G

G

rs226131070

75679178

G/A (C/T)

Exon2

530

Cs S99=

G

G

G

G

G

G

G

G

G

G

G

G

G

G

G

A

G

rs227683834

75678576

A/T (T/A)

Exon3

547

Cns V105D

A

A

A

A

A

A

A

A

A

A

A

A

A

A

A

T

A

rs257321187

75678506

T/C (A/G)

Exon3

617

Cs P128=

T

T

T

T

T

T

T

C

T

T

T

T

T

T

T

T

T

rs27978444

75678500

T/A (A/T)

Exon3

623

Cs V130=

T

T

T

T

T

T

T

A

T

T

T

T

T

T

A

T

T

rs227743136

75677686

G/A (C/T)

Exon4

662

Cs H143=

G

G

G

G

G

G

G

G

G

G

G

G

G

G

G

A

G

rs215327202

75677664

C/G (G/C)

Exon4

684

Cns A151P

C

C

C

C

C

C

C

G

C

C

C

C

C

C

C

C

C

rs247539755

75677663

G/A (C/T)

Exon4

685

Cns A151V

G

G

G

G

G

G

G

A

G

G

G

G

G

G

G

G

G

rs233164668

75677640

T/C (A/G)

Exon4

708

Cns N159D

T

T

T

T

T

T

T

T

T

T

T

T

T

T

T

C

T

rs234095816

75677162–75677160

GCT del; (AGC del)

Exon5

826−828

Cds-indel Q198

GCT

rs27978452

75677145

C/T (G/A)

Exon5

843

Cns A204T

C

C

C

C

C

C

C

C

C

C

C

C

C

C

C

C

T

rs225047937

75677086–75677078

GAGATCGAT del; (ATGCATCTC del)

Exon5

902−910

Cds-indel (S224/I225/S226)

GAG; ATC; GAT

rs241469868

75676998

T/A (G/T)

Exon5

990

Cn T253S

T

T

T

T

T

T

T

T

T

T

T

T

T

T

T

A

T

rs221602571

75676923

A/C (T/G)

Exon5

1065

Cns S278A

A

A

A

A

A

A

A

A

A

A

A

A

A

A

A

C

A

rs252576472

75676876

G/A (C/T)

Exon5

1112

Cs S293=

G

G

G

G

G

G

G

G

G

G

G

G

G

G

G

A

G

rs250802933

75676841

T/C (A/G)

Exon5

1147

Cns D305G

T

T

T

T

T

T

T

T

T

T

T

T

T

T

T

C

T

rs225425698

75676792

C/T (G/A)

Exon5

1196

Cs P321=

C

C

C

C

C

C

C

C

C

C

C

C

C

C

C

T

C

rs13459064

75676732

C/T (G/A)

Exon5

1256

Cs T341=

C

T

T

C

T

T

C

T

T

T

C

T

C

T

T

C

C

rs27978453

75676717

C/T (G/A)

Exon5

1271

Cs A346=

C

C

C

C

C

C

C

C

C

C

C

C

C

C

T

C

C

rs214335034

75676636

A/G (T/C)

Exon5

1352

Cs D373=

A

A

A

A

A

A

A

A

A

A

A

A

A

A

A

G

A

rs249583644

75676603

A/C (T/G)

Exon5

1385

Cs P384=

A

A

A

A

A

A

A

A

A

A

A

A

A

A

A

C

A

rs27978454

75676592

G/A (C/T)

Exon5

1396

Cns P388L

G

G

G

G

G

G

G

G

G

G

G

G

G

G

A

G

G

rs215384328

75676589

G/C (C/G)

Exon5

1399

Cns A389G

G

G

G

G

G

G

G

G

G

G

G

G

G

G

G

C

G

rs251728286

75676571

G/A (C/T)

Exon5

1417

Cns T395I

G

rs247602334

75676567

T/C (A/G)

Exon5

1421

Cs V396=

T

T

T

T

T

T

T

T

T

T

T

T

T

T

T

C

T

rs234216231

75676530

T/C (A/G)

Exon5

1458

Cns M409V

T

T

T

T

T

T

T

T

T

T

T

T

T

T

T

C

T

rs212904337

75676526

C/T (G/A)

Exon5

1462

Cns R410H

C

C

C

C

C

C

C

C

C

C

C

C

C

C

C

T

C

rs252650779

75676522

T/C (A/G)

Exon5

1466

Cs E411=

T

T

T

T

T

T

T

T

T

T

T

T

T

T

T

C

T

rs231273560

75676516

T/C (A/G)

Exon5

1472

Cs Q413=

T

T

T

T

T

T

T

T

T

T

T

T

T

T

T

C

T

rs257886949

75676413

G/T (C/A)

Exon5

1575

Cs R448=

G

G

G

G

G

G

G

G

G

G

G

G

G

G

G

T

G

rs241537608

75676404

G/C (C/G)

Exon5

1584

Cns L451V

G

G

G

G

G

G

G

G

G

G

G

G

G

G

G

C

G

rs227619071

75676312

T/C (A/G)

Exon5

1676

Cs Q481=

T

T

T

T

T

T

T

T

T

T

T

T

T

T

T

C

T

rs258913831

75676290

A/G (T/C)

Exon5

1698

Cs L489=

A

A

A

A

A

A

A

A

A

A

A

A

A

A

A

G

A

rs225593319

75676126

A/T (T/A)

Exon5

1862

Cns H543Q

A

rs4223233

75676105

G/A (C/T)

Exon5

1883

Cs S550=

G

G

G

G

G

G

G

A

G

G

G

G

G

G

G

G

G

rs4223232

75676032

G/T (C/A)

Exon5

1956

Cns L575M

G

rs4223231

75675816

C/G

UTR-3

2172

NC

G

G

G

G

G

G

G

G

G

G

G

G

G

G

G

C

G

rs1346860

75675682

A/T

UTR-3

2306

NC

A

Sequence variations in mouse Nrf2 were obtained from Mouse Phenome Database (http://phenome.jax.org/SNP) and NCBI SNP database (http://www.ncbi.nlm.nih.gov/SNP). NCBI reference sequence is Mus Musculus strain C57BL/6J chromosome 2, GRCm38.p1 (NC_000068.7, GI: 372099108. 75,704,641–75,675,519,29,123 bp). Total 968 genetic mutations are reported in Nrf2 gene and 5 kb upstream (≥75,704,642; −1) and 2 kb downstream (≤75,675,512) sequences as of January 2003. All SNPs and alleles are presented as genomic contig (reversed sequence indicated). Exon 1: 75,704,641–75,704,364 (278 bp, TTS = 75,704,408), exon 2: 75,679,431–75,679,165 (267 bp), exon 3: 75,678,579–75,678,490 (90 bp), exon 4: 75,677,713–75,677,546 (168 bp), and exon 5: 75,677,184–75,678,849 (1,666 bp). Protein amino acid (aa) residues in NP_006155.2 (597 aa). Cs: coding-synonymous. Cns: coding-nonsynonymous. Amino acid A-alanine, D-aspartic acid, E-glutamic acid, F-phenylalanine, G-glycine, H-histidine, I-isoleucine, L-leucine, and M-methionine. N-asparagine, P-proline, Q-glutamine, R-arginine, S-serine, T-threonine, and V-valine. ∗Errors in databases fixed. NC: not confirmed.