Table 4.
SAG sequence variations and amino acid exchanges in respective dog breeds
Sequence variations in breed(s)a | ||||
Location | Sequence variation* | Amino acid exchange | In affected and gPRA unaffected dogs | gPRA affected dogs in heterozygous state |
Intron 1 | IVS1+393T→C | - | BDP, BS, GR, IRS, Rob, TT | BDP, GR, |
Exon 2 | UTR-5A→G | - | Bo, BS, GRc, BDP, IRS, SDc, Sl, TTb | Bo, GR, SD |
c255A→G | H14C | SI | Sl | |
Exon 5 | c526C→T | A111V | Sac | Sa |
c531G→A | A113T | Sac | Sa | |
Intron 5 | IVS5-30C→T | - | ECS, MP, Rob, Sac | ECS, MP, Sa |
Exon 6 | c610C→T | C132C | GR | GR |
Intron 7 | IVS7+10C→T | - | IRSb, GR, SPc | D, IRS, GR |
IVS7+52Ins.G | - | GRc | GR | |
IVS7-4Del.G | - | CCRb D, GR, IRS, MP, SDc, Slc, SPb, TTc | D, GR, IRS, SD | |
Exon 8 | c811G→A | Q199Q | GR | GR |
Intron 8 | IVS8+8A→G | - | D, ECSc, GRc, LRc, Sa | D, ECS, GR, Sa |
Exon 9 | c874T→C | H225H | Bo, BDP, CCRb, ECS, D, GRc, IRS, MP, NF, Rob, Sa, Slb, TTbc | Bo, ECS, D, GR, IRS, MP, NF, Sa |
Exon 10 | c949G→T | V247V | IRS, GR | GR |
c983G→T | D259T | ACb | AC | |
c1000A→G | P264P | AC, LR, IRSb, GR | GR | |
Intron 10 | IVS10-18G→C | - | GR, IRS, BDP | GR |
IVS10-33C→T | - | GR, IRS | GR | |
Exon 11 | c1063G→A | T288T | BS, BDP, GR, IRSb, Sa | BS, GR, Sa |
c1076C→T | L293L | BS, BDP, GRc, Sa, TT | BS, Sa | |
Intron 11 | IVS11-51Ins.TT | - | Sa, IRSb | Sa |
Intron 13 | IVS13+66C→G | - | Sa, IRSb | Sa |
Intron 14 | IVS14-45Del.A | - | PON | PON |
Intron 15 | IVS15+14C→T | - | Sa | - |
IVS15+86T→A | - | Sa | - | |
IVS15-45Ins.C | - | PON, AWbc, SPb | PON | |
Exon 16 | c1344C→A | A379E | IRSb, ECSb, GRc, PON, Sabc, TTb | ECS, GR |
a For abbreviations see Table 1b Homozygous state in gPRA affected dogs c Homozygous state in unaffected dogs *(EMBL accession number for cDNA: X98460; EMBL accession numbers for genomic DNA: AJ426068-AJ426078)