Table 1 of
Kalsoom, Mol Vis 2015; 21:1085-1092. Table 1 of
Kalsoom, Mol Vis 2015; 21:1085-1092.
Table 1. Mutations in the RB1 gene identified in a cohort of 70 Pakistani RB patients.
| Patient ID | *U/B | Exon/ | g.Position | c.Position | Protein change | Type of mutation | Remarks |
|---|---|---|---|---|---|---|---|
| **H/NH/MC/FC | Intron | ||||||
| No. | |||||||
| RB35 | U/NH | Promoter | g.1991G>C | - | - | Substitution | Novel |
| RB37 | U/NH | Exon 2 | g.5434G>T | c.148G>T | p.Glu50* | Nonsense | Novel |
| RB23 | B/NH | Exon 2 | g.5446G>T | c.160G>T | p.Glu54* | Nonsense | *** |
| rb1-lsdb | |||||||
| RB51a | B/H | Exon 3 | g.39470G>T | c.289G>T | p.Glu97* | Nonsense | rb1-lsdb |
| RB51b | B/H | ||||||
| RB49 | U/NH | Intron 3 | g.39562G>T | c.380+1G>T | - | Splicing | rb1-lsdb |
| RB28 | U/NH | Exon 7 | g.56855G>T | c.610G>T | p.Glu204* | Nonsense | Novel |
| RB40 | B/H | Exon 8 | g.59683C>T | c.751C>T | p.Arg251* | Nonsense | rb1-lsdb |
| RB40 | MC | ||||||
| RB67 | B/NH | ||||||
| RB20 | B/NH | Exon 8 | g.59704_59708delAACAG | c.772_776 | p.Asn258 | Deletion | rb1-lsdb |
| RB44a | B/H | delAACAG | Glufs*11 | ||||
| RB44b | B/H | ||||||
| RB44c | B/H | ||||||
| RB44 | MC | ||||||
| RB38 | U/NH | Exon 10 | g.64337A>T | c.947A>T | p.Asn316Ile | Missense | Novel |
| RB22a | U/H | Exon 10 | g.64357G>T | c.967G>T | p.Glu323* | Nonsense | rb1-lsdb |
| RB22b | U/H | ||||||
| RB22 | FC | ||||||
| RB18 | B/NH | Exon 11 | g.65386C>T | c.1072C>T | p.Arg358* | Nonsense | rb1-lsdb |
| RB65 | B/NH | Exon 11 | g.65430_65433delCACT | c.1116_1119 | p.Thr373 | Deletion | Novel |
| delCACT | Glnfs*6 | ||||||
| RB03 | B/NH | Intron 12 | g.70330G>A | c.1215+1G>A | - | Splicing | rb1-lsdb |