Table 2 of
Mohd Khalid, Mol Vis 2015; 21:1185-1190. Table 2 of
Mohd Khalid, Mol Vis 2015; 21:1185-1190.
Table 2. Summary of RB1 mutations identified in 10 Malaysian RB patients.
| Patient ID | Mutation | Mutational type | Location | Consequence (experimental evidence /putative) | Status |
|---|---|---|---|---|---|
| RB01 | c.1960+1G>A | Splice | Intron 19 | Confirmed to cause skipping of exon 19 | Reported [17] |
| RB04 | c.861G>C | Splice | Exon 8 | Confirmed to cause skipping of exon 8 | Reported [18] |
| RB12 | c.1735C>T | Nonsense | Exon 18 | Predicted to create premature stop codon, p.(Arg579*) | Reported [13] |
| RB15 | c.751C>T | Nonsense | Exon 8 | Predicted to create premature stop codon, p.(Arg251*) | Reported
[13] |
| RB33 | c.2184C>G | Nonsense | Exon 21 | Predicted to create premature stop codon, p.(Tyr728*) | Novel |
| RB42 | c.390del | Frameshift | Exon 4 | Predicted to create premature stop codon, p.(Lys130Asnfs*6) | Novel |
| RB45+ | c.19dup | Frameshift | Exon 1 | Predicted to create premature stop codon, p.(Arg7Profs*24) | Reported [19] |
| RB05 | - | Gross deletion | Whole RB1 gene deletion | One copy of RB1 gene is predicted to be lost | Reported [19] |
| RB36 | - | Gross deletion | Deletion from Promoter to exon 3 | One copy of RB1 gene is predicted to be lost | Novel |
| RB48 | - | Gross deletion | Whole RB1 gene deletion | One copy of RB1 gene is predicted to be lost | Reported [19] |