Table 4 of Dekomien, Mol Vis 2003; 9:601-605.

Table 4. Sequence variations in the RPE65 gene in different dog breeds

gPRA-affected breeds (abbreviations see Table 1) with sequence variation patterns in heterozygous state are shown in red type. Haplotypes in intron 11 were either CAA or ATG in the respective dog breeds. Positions of the sequence variations in the cDNA: EMBL accession number AF084537.

                           Sequence       Amino acid
Gene    Localization      variation        exchange                     Breed
-----   ------------   ----------------   ----------   -----------------------------------------------
RPE65    Intron 1      IVS1 +76DelG         -          AC, AW, CCR, ECS, GR, LR, NF, Sal, MP
RPE65    Exon 5        T459C                Y144Y      AC, AW, ECS, Co, EM, GR, LR, GS, BDP, Sa, Sal,
                                                       ScT, Sl, D, TT, Y, MP
RPE65    Exon 6        G541A                V172I      ACS, IRS, D, ECS, LR, TT, Sa, GR
RPE65    Intron 6      IVS6+23T->C          -          AW, SP, GS
                       IVS6+31C->G          -          GS, Sl
                       IVS6+71-72Ins.GG     -          MP
                       IVS6+116G->C         -          MP
                       IVS6+164G->A         -          SP, Sl
RPE65    Intron 7      IVS7-69T->A          -          ECS, EM, Ro, GS, Sa, Sl, D, TT, MP, BDP
                       IVS7-18C->A          -          ECS, EM, Ro, GS, Sa, Sl, D, TT, MP, BDP
RPE65    Intron 8      IVS8+24T->C          -          AC, Bo, EM, GR, IRS, SD, D, PON, Sa, MP, BDP
                       IVS8+109TIns/Del     -          AW, Bo, ECS, EM, IRS, GR, PON, Ro, GS, BDP,
                                                       Sa, SD, Sp, D, MP
RPE65    Exon 9        C900T                I291I      ECS, Sa, D, BDP
RPE65    Exon 10       A1026T               G333G      SD, GS, TT, MP
RPE65    Intron 11C    IVS11+110C->A        -          AC, Co, ECS, EM, LR, Sa, ScT, Sl,
                       IVS11+138A->T                   D, TT, Y, MP
                       IVS11+203G->A        -          ECS, EM, IRS, NF, ScT, SD, Sa, D, TT, MP, BDP
                       IVS11-61Del.T        -          AW, D, TT, MP
RPE65    Intron 13     IVS13+36 C->T        -          AW, EM, IRS, ScT, Sp, D, NF, GS, Sa, TT, MP, BDP
RPE65    Exon 14       c1856 Del.A          -          AC, ECS, EM, GR, LR, Sa, Sl, D, TT, Y, MP

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