Table 4 of
Dekomien, Mol Vis 2003;
9:601-605.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+143A->G
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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