Table 1

DNA variants identified in DLX genes

Gene

Location

SNP #

Name

dbSNP

Contig

Build34

Change

AA Pos

AA Change


NT_005403.14

DLX1-2

URE2

-

1

NT_005403.14:g.23146815

23146815

173139942

C -> T

-

-

-

2

NT_005403.14:g.23147084

23147084

173140211

A -> G

-

-

-

3

NT_005403.14:g.23147129

23147129

173140256

G -> A

-

-

-

4

NT_005403.14:g.23147332

23147332

173140459

G -> A

-

-

DLX1

5'

1

-111G>T

23159712

173152839

G -> T

-

-

(AY257976)

3'

2

*170T>C

23162572

173155699

T -> C

-

-

3'

3

*182C>G

rs3821186

23162584

173155711

C -> G

-

-

DLX1-2 BR

-

1

NT_005403.14:g.23165866

23165866

173158993

C -> A

-

-

DLX1-2 AR

-

InDel-1

NT_005403.14:g.23168271

23168271

173161398

G -> -

-

-

DLX2

5'

1

-36G>A

rs743605

23176719

173169846

G -> A

-

-

(NM_004405)

Exon 1

InDel-1

138_139insAGC

23176546

173169673

AGC

46_47

Ser46_Leu47insSer

Exon 1

2

394G>A

23176290

173169417

G -> A

132

Glu -> Lys

Intron 1

3

401-156C>T

23175947

173169074

C -> T

-

-

Exon 2

4

525A>G

rs2228184

23175667

173168794

A -> G

175

Gln -> Gln

Intron 2

5

585+100C>G

23175507

173168634

C -> G

-

-

Exon 3

6

670G>A

23175005

173168132

G -> A

224

Ala -> Thr

3'

7

987*1C>T

23174687

173167814

C -> T

-

-

3

8

987*65C>T

23174623

173167750

C -> T

-

-

3'

9

987*154C>T

23174534

173167661

C -> T

-

-

NT_007933.13

DLX5

Exon 1

1

252C>G

21887602

96265415

C -> G

84

Ala -> Ala

(NM_005221)

Exon 1

2

306C>T

21887548

96265361

C -> T

102

His -> His

Intron 2

3

541-44C>G

21884339

96262152

C -> G

-

-

Intron 2

4

541-31C>T

21884326

96262139

C -> T

-

-

Intron 2

5

541-10C>T

21884305

96262118

C -> T

-

-

Exon 3

6

685T>C

21884151

96261964

T -> C

229

Ser -> Pro

Exon 3

7

702C>A

21884134

96261947

C -> A

234

Ser -> Arg

DLX5-6 I1

-

1

NT_007933.13:g.21875347

21875347

96253160

A -> G

-

-

DLX6

Intron 1

1

82+57C>T

21869700

96247513

C -> T

-

-

(NM_005222)

Intron 1

2

82+58C>T

21869701

96247514

C -> T

-

-

Intron 1

3

82+59C>T

21869702

96247515

C -> T

-

-

Intron 1

4

82+103C>T

21869746

96247559

C -> T

-

-

Intron 1

5

82+124C>T

21869767

96247580

C -> T

-

-

Intron 1

6

82+160C>T

21869803

96247616

C -> T

-

-

Intron 1

7

83-85A>C

rs1207727

21870783

96248596

A -> C

-

-

3'

8

*9A>G

rs3213654

21873286

96251099

A -> G

-

-


aVariant naming by accepted mutation nomenclature convention (references 53 and 54).

bContig accessions: NT_005403.14 for DLX1/2 region; NT_007933.13 for DLX5/6 region.

cNucleotide changes are listed major allele to minor allele, with chimp allele bolded.

dChimp sequence not available for DLX2 InDel-1.

ers2228184 is also known as rs12619503.

Hamilton et al. BMC Genetics 2005 6:52   doi:10.1186/1471-2156-6-52

Open Data