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Table 1 Detailed information of nonsynonymous breed-specific SNPs identified across breeds

From: Systematically identifying genetic signatures including novel SNP-clusters, nonsense variants, frame-shift INDELs, and long STR expansions that potentially link to unknown phenotypes existing in dog breeds

Breed (sample size)

Chromosome

Gene harboring each variant

Position of the amino acid change on protein

Amino acid change

Amino acid in reference breeds

Amino acid in the target breed

Airedale Terrier (n = 4)

chr2

IRX6: Iroquois Homeobox 6

148/443

Arginine

Cysteine

chr11

LOC119874041: Uncharacterized gene

843/1321

Valine

Glycine

chr11

859/1321

Proline

Threonine

chr11

888/1321

Leucine

Methionine

chr17

C17H2orf78: Chromosome 17 homolog 2 open reading frame 78

190/933

Proline

Serine

chr18

LOC541568: Uncharacterized gene

276/327

Isoleucine

Methionine

chr18

DUSP8: Dual Specificity Phosphatase 8

8/625

Arginine

Tryptophan

chr19

NCKAP5: NCK Associated Protein 5

1805/1952

Leucine

Glutamine

chr33

GAP43: Growth Associated Protein 43

236/243

Arginine

Histidine

Akita (n = 5)

chr1

LOC119870150: Uncharacterized gene

156/233

Serine

Phenylalanine

chr5

ARHGEF12: Rho Guanine Nucleotide Exchange Factor 12

468/1543

Methionine

Isoleucine

chr11

NFX1: Nuclear Transcription Factor, X-Box Binding 1

667/1118

Leucine

Phenylalanine

chr11

AQP3: Aquaporin 3

13/324

Glutamic acid

Lysine

chr11

NOL6: Nucleolar Protein 6

322/1146

Phenylalanine

Leucine

chr15

LOC106559783: Uncharacterized gene

122/210

Alanine

Valine

chr16

KLKB1: Kallikrein B1

147/690

Threonine

Arginine

chr17

EIPR1: EARP Complex And GARP Complex Interacting Protein 1

44/317

Serine

Glycine

chr20

SLMAP: Sarcolemma Associated Protein

457/865

Serine

Alanine

chr20

NIBAN3: Niban Apoptosis Regulator 3

559/623

Asparagine

Serine

chr20

552/623

Glycine

Arginine

chr20

465/623

Asparagine

Aspartic acid

chr20

JSRP1: Junctional Sarcoplasmic Reticulum Protein 1

80/391

Leucine

Proline

chrX

LOC119863881: Uncharacterized gene

107/174

Aspartic acid

Glycine

chrX

LOC119863881: Uncharacterized gene

113/174

Leucine

Phenylalanine

Alaskan Malamute (n = 4)

chr3

SLC2A9: Solute Carrier Family 2 Member 9

426/435

Glycine

Arginine

chr6

BTBD8: BTB Domain Containing 8

636/1731

Arginine

Lysine

chr13

TMEM71: Transmembrane Protein 71

59/311

Tyrosine

Histidine

chr26

LOC119866109: Uncharacterized gene

100/287

Arginine

Glycine

chr28

PIK3AP1: Phosphoinositide-3-Kinase Adaptor Protein 1

492/821

Asparagine

Serine

chr33

FBXO40: F-Box Protein 40

565/712

Leucine

Phenylalanine

chr33

GOLGB1: Golgin B1

2910/2930

Histidine

Tyrosine

Basset Hound (n = 6)

chr6

ATP5J2:ATP Synthase Membrane Subunit F

686/752

Tyrosine

Cysteine

chr6

MYH16: Myosin Heavy Chain 16

1746/1993

Glutamine

Stop

chr6

KDELR2: Endoplasmic Reticulum Protein Retention Receptor 2

132/207

Arginine

Glycine

Bernese Mountain Dog (n = 5)

chr1

MEGF8: Multiple EGF Like Domains 8

2514/2792

Arginine

Glutamine

chr3

SLC28A1: Solute Carrier Family 28 Member 1

8/629

Arginine

Stop

chr5

TM4SF5: Transmembrane 4 L Six Family Member 5

77/197

Glycine

Serine

chr5

ANGPTL3: Angiopoietin Like 3

228/459

Leucine

Phenylalanine

chr16

FAT1: FAT Atypical Cadherin 1

925/4603

Proline

Arginine

Border Terrier (n = 4)

chr7

LOXHD1: Lipoxygenase Homology PLAT Domains 1

518/2224

Asparagine

Serine

Boxer (n = 4)

chr9

MYADML2: Myeloid Associated Differentiation Marker Like 2

128/307

Arginine

Glycine

chr9

SAP30BP: SAP30 Binding Protein

54/322

Threonine

Asparagine

chr9

MYO15B: Myosin XVB

1577/2964

Histidine

Tyrosine

chr9

OTOP2: Otopetrin 2

471/590

Serine

Isoleucine

chr9

CD300A: Cluster of Differentiation 300A

32/330

Serine

Leucine

chr11

MLLT3: Mixed-Lineage Leukemia Translocated To Chromosome 3 Protein

250/568

Methionine

Threonine

chr14

GATAD1: GATA Zinc Finger Domain Containing 1

158/325

Methionine

Valine

chr14

PEX1: Peroxisomal Biogenesis Factor 1

616/1416

Isoleucine

Valine

chr32

SYNPO2: Synaptopodin 2

1099/1267

Proline

Leucine

Bull Terrier (n = 5)

chr1

SELENOV: Selenoprotein V

580/627

Valine

Methionine

chr1

SIPA1L3: Signal Induced Proliferation Associated 1 Like 3

1409/1803

Threonine

Methionine

chr9

CACNG5: Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 5

189/275

Threonine

Serine

chr9

TP53I13: Tumor Protein P53 Inducible Protein 13

91/394

Arginine

Glutamine

chr20

ADAMTS10: A Disintegrin And Metalloproteinase With Thrombospondin Motifs 10

394/1103

Isoleucine

Threonine

chr22

PIBF1: Progesterone Immunomodulatory Binding Factor 1

719/723

Lysine

Stop

chr25

RP1L1: Retinitis Pigmentosa 1-Like 1 Protein

425/1956

Leucine

Methionine

Bullmastiff (n = 5)

chr3

LOC100855743: Uncharacterized gene

107/330

Aspartic acid

Glycine

chr4

LOC111093318: Uncharacterized gene

68/166

Arginine

Histidine

chr9

WDR81: WD Repeat Domain 81

185/1949

Alanine

Threonine

chr9

OR3A1H: Olfactory receptor family 3 subfamily A member 1H

232/315

Arginine

Cysteine

chr9

CACFD1: Calcium Channel Flower Domain Containing 1

165/172

Threonine

Methionine

chr17

LOXL3: Lysyl oxidase like 3

267/804

Leucine

Phenylalanine

Chow Chow (n = 4)

chr2

C2H16orf78: Chromosome 2 homolog 16 open reading frame 78

249/264

Glutamic acid

Aspartic acid

chr6

ZKSCAN5: Zinc Finger With KRAB And SCAN Domains 5

291/835

Valine

Isoleucine

chr6

UBN1: Ubinuclein 1

872/1169

Serine

Leucine

chr6

SLX4: SLX4 Structure-Specific Endonuclease Subunit

95/1733

Glutamic acid

Lysine

chr6

IFT140: Intraflagellar Transport 140

622/1459

Arginine

Tryptophan

chr6

CAPN15: Calpain 15

387/1153

Proline

Leucine

chr8

LTBP2: Latent Transforming Growth Factor Beta Binding Protein 2

674/1817

Threonine

Alanine

chr12

CEP162: Centrosomal Protein 162

419/1426

Arginine

Glutamine

chr20

NBEAL2: Neurobeachin-Like Protein 2

2236/2745

Glycine

Aspartic acid

chr21

LOC119864893: Uncharacterized gene

275/319

Glutamic acid

Aspartic acid

chr21

OR56A9: olfactory receptor family 56 subfamily A member 9

152/315

Asparagine

Serine

chr26

MPHOSPH9: M-Phase Phosphoprotein 9

891/1182

Threonine

Isoleucine

chr32

C32H4orf54: Chromosome 32 homolog 4 open reading frame 54

260/1803

Glycine

Arginine

Collie (n = 6)

chr8

CLEC14A: C-Type Lectin Domain Containing 14A

241/489

Glycine

Alanine

chr18

LOC102157137: Uncharacterized gene

152/310

Tryptophan

Arginine

Dalmatian (n = 5)

chr3

SLC2A9: Solute Carrier Family 2 Member 9

188/535

Cysteine

Phenylalanine

chr10

ANKRD53: Ankyrin Repeat Domain 53

326/507

Serine

Glycine

Doberman Pinscher (n = 4)

chr2

PLA2G5: Phospholipase A2 Group V

164/190

Arginine

Tryptophan

chr5

ACSF3: Acyl-CoA Synthetase Family Member 3

473/600

Arginine

Tryptophan

chr16

STAR: Steroidogenic acute regulatory protein

67/285

Leucine

Phenylalanine

Field Spaniel (n = 4)

chr1

LOC484505: Uncharacterized gene

199/2995

Alanine

Valine

Flat-coated Retriever (n = 7)

chr2

LACTBL1: Lactamase Beta Like 1

193/590

Methionine

Isoleucine

Irish Wolfhound (n = 4)

chr9

SDK2: Sidekick Cell Adhesion Molecule 2

83/2172

Arginine

Cysteine

chr14

CRHR2: Corticotropin Releasing Hormone Receptor 2

41/435

Valine

Methionine

chrX

LOC480918:Uncharacterized gene

77/247

Alanine

Proline

Keeshond (n = 5)

chr18

BLVRA: Biliverdin Reductase A

301/353

Valine

Isoleucine

chr18

PUS7: Pseudouridine Synthase 7

166/659

Phenylalanine

Leucine

Leonberger (n = 5)

chr9

GBGT1: Globoside Alpha-1,3-N-Acetylgalactosaminyltransferase 1

303/347

Arginine

Histidine

Manchester Terrier (n = 5)

chr6

MYH16: Myosin Heavy Chain 16

329/1993

Glycine

Arginine

chr6

GPR139: G Protein-Coupled Receptor 139

290/352

Arginine

Lysine

chr12

RAB44: Member RAS Oncogene Family 44

100/970

Glutamic acid

Lysine

chr20

DAPK3: Death Associated Protein Kinase 3

383/454

Glutamine

Glutamic acid

chr21

SERPINH1: Serpin Family H Member 1

14/418

Alanine

Threonine

Miniature Schnauzer (n = 5)

chr7

PDC: Phosducin

82/245

Arginine

Glycine

chr7

MAEL: Maelstrom Spermatogenic Transposon Silencer

85/438

Proline

Alanine

chr12

GPR63: G Protein-Coupled Receptor 63

324/419

Isoleucine

Threonine

chr35

LOC488316: Uncharacterized gene

40/487

Arginine

Cysteine

chr35

95/487

Glutamine

Stop

Newfoundland (n = 4)

chr5

ATP2C2: ATPase Secretory Pathway Ca2 + Transporting 2

179/945

Histidine

Leucine

Norwich Terrier (n = 4)

chr5

SLC12A4: Solute Carrier Family 12 Member 4

651/1094

Leucine

Valine

chr5

CTRL: Chymotrypsin-like protease

227/268

Glycine

Arginine

chr5

PLEKHG4: Pleckstrin Homology And RhoGEF Domain Containing G4

672/1195

Threonine

Serine

chr18

TPCN2: Two pore segment channel 2

175/926

Valine

Methionine

chr18

SNX32: Sorting Nexin 32

323/417

Arginine

Tryptophan

chr18

PCNX3: Pecanex homolog 3

576/2042

Arginine

Tryptophan

chr31

ZBTB21: Zinc Finger and BTB Domain Containing 21

300/1057

Glycine

Arginine

Rhodesian Ridgeback (n = 3)

chr3

SEL1L3: SEL1L family member 3

452/1156

Proline

Leucine

chr17

TOGARAM2: TOG Array Regulator Of Axonemal Microtubules 2

968/1146

Arginine

Serine

Samoyed (n = 5)

chr9

LGALS9: Galectin 9

190/355

Alanine

Proline

chr9

ERAL1: Era Like 12S Mitochondrial RRNA Chaperone 1

406/437

Arginine

Histidine

chr20

SH2D3A: SH2 Domain Containing 3A

531/602

Glycine

Serine

chr38

SLAMF8: SLAM Family Member 8

5/289

Tryptophan

Stop

Scottish Terrier (n = 3)

chr2

SREK1: Splicing Regulatory Glutamine/lysine-rich Protein 1

458/647

Arginine

Serine

chr17

SH2D6: SH2 Domain Containing 6

179/357

Threonine

Proline

St. Bernard (n = 6)

chr30

PRTG: Protogenin

553/1200

Arginine

Cysteine

Staffordshire Bull Terrier (n = 5)

chr35

H2AC8: H2A Clustered Histone 8

133/133

Tyrosine

Serine

Sussex Spaniel (n = 5)

chr2

CYLD: Lysine 63 Deubiquitinase

277/956

Aspartic acid

Asparagine

chr3

SEL1L3: SEL1L Family Member 3

8/1156

Histidine

Proline

chr5

COG4: Component Of Oligomeric Golgi Complex 4

682/788

Methionine

Leucine

chr6

EIF3B: Eukaryotic Translation Initiation Factor 3 Subunit B

735/785

Alanine

Threonine

chr6

GDPD3: Glycerophosphodiester Phosphodiesterase Domain Containing 3

184/320

Serine

Isoleucine

chr7

NENF: Neudesin Neurotrophic Factor

108/174

Aspartic acid

Glutamic acid

chr9

PRRC2B: Proline Rich Coiled-Coil 2B

102/2228

Threonine

Methionine

chr9

LCN2: Lipocalin 2

202/207

Arginine

Cysteine

chr11

LOC119873934: Uncharacterized gene

134/142

Leucine

Stop

chr11

RUSC2: RUN And SH3 Domain Containing 2

1197/1512

Glutamine

Arginine

chr11

OR13E1: Olfactory Receptor Family 13 Subfamily E Member 1

120/326

Arginine

Histidine

chr12

COL11A2: Collagen Type XI Alpha 2 Chain

93/1778

Arginine

Proline

chr15

OTOGL: Otogelin Like protein

1194/2343

Histidine

Glutamine

chr27

LMBR1L: Limb Development Membrane Protein 1 Like protein

229/489

Valine

Alanine

chr30

CEP152: Centrosomal Protein 152

849/1718

Valine

Isoleucine

chrX

HDAC6: Histone Deacetylase 6

130/1217

Glutamine

Arginine

chrX

CXHXorf66: chromosome X CXorf66 homolog

259/376

Arginine

Cysteine

Tibetan Terrier (n = 4)

chr27

LOC119866324: Uncharacterized gene

191/293

Serine

Asparagine

chr27

NANOGNB: NANOG Neighbor Homeobox

208/328

Proline

Leucine

Welsh Terrier (n = 4)

chr11

BNC2: Basonuclin 2

321/1136

Proline

Leucine

chr27

ABCD2: ATP Binding Cassette Subfamily D Member 2

631/742

Tyrosine

Cysteine