Table 1.
NF1 Mutations Detected in OvCa Cell Lines and Primary Tumors by PTT.
| ID | cDNA Sequencing (NM_001042492, ATG as +1) | Genomic DNA Sequencing | Protein Change | Mutation Type |
| PEO4 | Del* c†291–481 (exon 4a) | A478T (first nucleotide of exon 4b, NM_001042492) | aa 97, PTC‡ at 109 | Splicing |
| CAOV3 | Del c3711-3977 (exons 22 and 23-1), c4110ins§102 bp | Del 1448 bps (exons 22 and 23-2 and partial introns 21 to 23-2) | aa1237, PTC 1245 | deletion/splicing |
| OVCA429 | Del c2943-2959 (exon 17) | Del 2943-2959 (NM_001042492) | aa 981, PTC 981 | deletion |
| A1847 | c4110 Ins101 bp from intron 23-2 | C-G intron 23a (at 304314067 NT_010799) | aa1371, PTC 1379 | Splicing |
| DOV13 | del c3873 -3977 (exon 23-1) | 3974 (exon 23-1) + 1 (G to T) (NM_001042492) | aa1291, PTC 1298 | splicing |
| OSC-2 | Duplication 662 bp (exons 24–27b) | No mutation detected | aa 1370, PTC 1379 | splicing |
| OSC-18 | Ins 178 bp (exons 44–45) | No mutation detected | aa 2602, PTC 2609 | splicing |
| OSC-24 | Del c5549-5751 (exon 30) | Del 34 nucleotides 5′ exon 30, Ins ATG | aa 1849, PTC 18451 | deletion/splicing |
| OSC-25 | Del c3711-3977 (exons 22 & 23-1) | No mutation detected | aa 1237, PTC 1245 | splicing |
| OSC-32 | Del exon 31 | No mutation detected | aa 1916, PTC 1921 | splicing |
| OSC-35 | Duplication 662 bp (exons 24–27b) | No mutation detected | aa 1370, PTC 1379 | splicing |
*
Del = deletion.
†
Sequence changes identified in cDNA are indicated by “c” before the number.
‡
PTC = premature termination codon.
§
Ins = insertion.