- Cystic fibrosis transmembrane conductance regulator (CFTR) variants identified in patients with cystic fibrosis from Saudi Arabia. The identity of the complementary deoxyribonucleic acid (cDNA), protein, legacy, and exon region of each identified CFTR variant is listed.
Variant number | cDNA name | Protein name | Legacy name | Region | Reference |
1 | c.1521_1523delCTT | p.Phe508del | [delta]F508 | Exon 11 | (16, 17) |
2 | c.1418delG | p.Gly473GlufsX54 | 1548delG | Exon 11 | (18) |
3 | c.579+1G>T | - | 711+ 1G- >T | Intron 5 | (19) |
4 | c.2988+1G>A | - | 3120+ 1G- >A | Intron 18 | (20, 21) |
5 | c.3419T>A | p.Met1140Lys | M1140K | Exon 21 | (22) |
6 | c.4124A>C | p.His1375Pro | H1375P | Exon 25 | (23) |
7 | c.3700A>G | p.Ile1234Val | I1234V | Exon 22 | (24) |
8 | c.2739T>A | p.Tyr913X | Y913X | Exon 17 | (25) |
9 | c.443T>C | p.Ile148Thr | I148T | Exon 4 | (26) |
10 | c.2657+5G>A | - | 2789+ 5G>A | Intron 16 | (27) |
11 | *1549 deIG | - | - | - | In this study |
12 | delExon19-21 | - | - | - | (17) |
13 | c.1697C>A | p.Ala566Asp | - | Exon 12 | (28) |
14 | c.2620-26A>G | - | 2752- 26A- >G | Intron 15 | (29) |
15 | c.2051_2052delAAinsG | p.Lys684SerfsX38 | 2183AA- >G | Exon 14 | (30) |
16 | c.1660_1661insA | p.Ala554AspfsX14 | - | Exon 12 | (31) |
17 | c.4251delA | p.Glu1418ArgfsX14 | 4382delA | Exon 27 | (32) |
18 | c.3717+12191C>T | - | 3849+ 10kbC- >T | Intron 22 | (23) |
19 | c.220C>T | p.Arg74Trp | R74W | Exon 3 | (33) |
20 | c.530T>C | p.Ile177Thr | I177T | Exon 5 | (34) |
21 | c.1408A>G | p.Met470Val | M470V | Exon 11 | (35) |
22 | c.2562T>G | - | 2694T/G | Exon 15 | (36) |
23 | c.4389G>A | - | 4521G/A | Exon 27 | (37) |
24 | c.869+11C>T | - | 1001+ 11C/T | Intron 7 | (38) |
25 | c.91C>T | p.Arg31Cys | R31C | Exon 2 | (39) |
26 | c.1399C>T | p.Leu467Phe | 1531C/T (L467F) | Exon 11 | (40) |