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Table 2 Protein-changing variants in polyneuropathy-associated candidate genes enriched in Leonberger dogs compared to 614 controls from various breeds

From: Genomic diversity and population structure of the Leonberger dog breed

Gene

OMIM/ OMIA number

Variant designationa

Alternative allele frequency

Genomic position

Coding DNA change

Protein change

Leonbergers

Controls

CNTNAP1

602346

chr9:20,294,320

c.3863G > C

p.Arg1288Pro

0.3974

0.0366

CNTNAP1

602346

chr9:20,298,261

c.2585G > A

p.Gly862Glu

0.1538

0.0067

DHTKD1

614984

chr2:24,316,951

c.1820C > T

p.Ala607Val

0.0897

0.0049

DIAPH3

614567

chr22:15,880,854

c.2000G > A

p.Cys667Tyr

0.1538

0.0689

DST

113810

chr12:23,771,235

c.18224C > T

p.Thr6075Met

0.0769

0.0008

DST

113810

chr12:23,782,332

c.17800C > T

p.Arg5934Trp

0.4359

0.0330

DST

113810

chr12:23,846,624

c.10661C > T

p.Ser3554Leu

0.0769

0.0369

DYNC1H1

600112

chr8:70,064,306

c.13757C > T

p.Pro4586Leu

0.1282

0.0051

GARS

600287

chr14:43,322,005

c.622G > A

p.Val208Ile

0.1154

0.0025

GJA9

611923/2119–9615

chr15:3,862,761

c.344G > C

p.Arg115Thr

0.5513

0.0868

JPH1

605266

chr29:22,710,800

c.1531A > G

p.Ile511Val

0.1923

0.0299

LOC477508

602072

chr26:16,348,822

c.298G > A

p.Val100Met

0.1795

0.0066

MME

120520

chr23:49,045,461

c.1700A > T

p.Gln567Leu

0.0769

0.0157

NEFH

162230

chr26:22,729,485

c.1046G > A

p.Arg349His

0.2821

0.0116

NEFH

162230

chr26:22,732,974

c.1901_1924delTGAAGGAGGAGGCCAAGTCCCCAG

p.Val640_Pro647del

0.3974

0.0849

NEFH

162230

chr26:22,733,415

c.2326C > G

p.Pro768Ala

0.0513

0.0059

OTOF

603681

chr17:20,534,866

c.3451G > A

p.Ala1151Thr

0.7051

0.0094

PDXK

179020

chr31:37,707,445

c.774G > C

p.Arg258Ser

0.1923

0.0898

PRX

605725

chr1:113,290,407

c.784G > A

p.Ala262Thr

0.1282

0.0257

SBF2

607697

chr21:33,036,988

c.4114C > T

p.Pro1372Ser

0.1667

0.0361

SLC12A6

604878

chr30:853,540

c.2498C > T

p.Ala833Val

0.0513

0.0250

WNK1

605232

chr27:42,911,057

c.7448C > G

p.Thr2483Arg

0.0128

0.0058

  1. aAdditional details including the protein prediction effects are described in Additional file 10: Table S6. All positions refer to the CanFam3.1 reference sequence assembly
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Genetics Selection Evolution

ISSN: 1297-9686