Table 4 of
Abouzeid, Mol Vis 2007;
13:1740-1745.Table 4 of
Abouzeid, Mol Vis 2007;
13:1740-1745.
Table 4. Retinoblastoma 1 detected mutations
The following abbreviations were used: retinoblastoma (RB), familial (F), sporadic (S), bilateral (B), unilateral (U), novel mutation (*), right eye (RE), left eye (LE), and not available (NA).
Tumor
Age at foci
Patient diagnosis -------
number RB Disease (months) Location DNA Protein RNA RE LE
------- -- ------- --------- --------- ---------------------------------- ------------ -------- -- --
1 F B 3 Exon 1* g.2157dupC p.P34RfsX15 4 1
2 S B 2 Intron 2* g.39445G>A splicing 1 4
3 S B 13 Exon 4* g.41983delT p.N146KfsX7 5 1
4 S B 9 Exon 5* g.44699_44706delAGCAGTTC p.S178DfsX4 1 3
5 S U 10 Intron 6* g.56851A>G splicing 1
6 S B 8 Exon 8 g.59683C>T p.R251X NA 3
7 F B 21 Exon 8 g.59683C>T p.R251X 3 3
8 S B 2 Exon 10 g.64348C>T p.R320X 5 2
9 S B 12 Exon 10 g.64348C>T p.R320X 2 5
10 S B 14 Intron 12 g.70330G>A splicing 2 1
11 S B 8 Intron 12 g.70330G>A splicing 5 NA
12 S B 3 Exon 14 g.76430C>T p.R445X NA 1
13 S B 3 Exon 14 g.76460C>T p.R455X 1 1
14 S B 2 Exon 15 g.76898C>T p.R467X NA NA
15 S B 4 Exon 17 g.78238C>T p.R552X 2 2
16 F B 7 Exon 17 g.78244G>T p.E554X 3 1
17 S B 18 Exon 17* g.78253delA p.I560SfsX54 NA NA
18 S B 13 Exon 18 g.150037C>T p.R579X 1 2
19 S U 17 Exon 18 g.150037C>T p.R579X 1
20 S U 33 Exon 18 g.150037C>T p.R579X 3
21 S B 20 Intron 19 g.153354G>A splicing 3 4
22 F U 5 Exon 20 g.156713C>T p.R661W 1
23 S B 5 Exon 21 g.160799delA p.T726QfsX18 1 5
24 S B 29 Exon 23 g.162237C>T p.R787X 4 2
25 S B 13 Exon 23 g.162237C>T p.R787X 5 1
26 S B 2 Exon 23 g.162237C>T p.R787X 2 1
27 S B 6 Intron 23 g.162368G>C splicing 5 1
28 S B 2 g.(?_47'727'284)_(49'209'610_?)del 1 2
NCBI build 36.1
29 S B 5 46,XY,del(13; q13.2q14.3) 3 1
30 F B 6 Exon 1* g.2179_2183dupGGACC p.L42RfsX25 6 NA
31 S B 2 Intron 3* g.41924A>G splicing NA 2
32 S B 13 Exon 8 g.59704_59708delAACAG p.N258EfsX11 3 NA
33 S B 17 Exon 8 g.59695C>T R255X NA 1
34 S B 3 Exon 8 g.59695C>T R255X 9 5
35 F B 21 Exon 11 g.65386C>T R358X 2 2
36 S B 3 Exon 13* g.73788_73789delAA p.R418SfsX9 3 1
37 S B 4 Exon 17 g.78238C>T R552X 2 2
38 F B 13 Exon 20* g.156795T>G p.L688R 2 4
39 S B 3 46,XX,inv(13; q14.2q21.3) NA 1
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