Table 1.
NBN Gene Polymorphisms Reported in the Paper
| Database SNP ID |
Polymorphism | Exon/intron | Amino Acid Substitution | Location in the Protein |
|---|---|---|---|---|
| rs13312842 | c.-905T>C; NBS1_5(-905)T/C | 5’UTR | ||
| 924T>C° | 5’UTR | |||
| rs36226237 | c110242delAGTA; NBS1_5UTR_(-352)_del(AGTA) |
5’UTR | ||
| rs1063045 | 102G>A; Ex2+65G>A; NBSI_X2_(102)_G/A; | Exon 2 | L34L | FHA |
| rs1805796 | c.320+208G>A | Intron 3 | ||
| rs1805794 | 553G >C; 8360G>C; EX6-32G>C; NBSI_X5_(553)_G/C | Exon 5 | E185Q | BRCT1 |
| rs61754796 | c.628G>T | Exon 6 | V210F | Tandem BRCT linker region |
| rs769420 | 797C>T | Exon 7 | P266L | BRCT2 |
| rs1805790 | c.994+1937A>G | Intron 8 | ||
| rs867185 | IVS9+1488C>T | Intron 8 | ||
| rs2234744 | c.1124+18C>T; IVS9+18C/T | Intron 9 | ||
| rs1805818 | c.1124+91C>A; ISV9+91C/A | Intron 9 | ||
| 30537G>C° | Intron 9 | |||
| rs709816 | c.1197T>C | Exon 10 | D399D | Downstream of tandem BRCT domains |
| rs2308962 | c.1915-7A>G; IVS12-7A>G | Intron 12 | ||
| rs3736639 | c.2071-30A>T | Intron 13 | ||
| rs3736640 | c.2071-61A>T; IVS13-61A/T | Intron 13 | ||
| rs1061302 | c.2016A>G; NBSI_X13_(2016)_A/G | Exon 13 | P672P | MRE11 binding domain |
| rs1063053 | c.*273G>A; EX17+304G>A; NBSI_3UTR_(+27)_G/A | 3’ UTR | ||
| rs2735383 | c.*541G>C | 3’UTR | ||
| rs13312981 | c.*757A>G | 3’UTR | ||
| rs1063054 | c.*1209A>C | 3’UTR | ||
| rs13312986 | c.*1692A>G | 3’UTR | ||
| rs9995 | c.*1754T>C | 3’UTR | ||
| rs14448 | c.*1977T>C | 3’UTR |
°
rs number not available in the database.