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Table 4 SAG sequence variations and amino acid exchanges in respective dog breeds

From: Screening of the arrestin gene in dogs afflicted with generalized progressive retinal atrophy

   

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

  1. a For abbreviations see Table 1 b 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)