Table 1.
Different mutations found in FANCA Spanish population classified by mutation type
| DNA change | Exon | Protein change | Reference | No. of alleles | No. of patients |
|---|---|---|---|---|---|
| Point mutations, 48 (36.9%) | |||||
| c.65G>A | 1 | p.W22X | 23 | 2 | 2 |
| c.295C>T | 4 | p.Q99X | 6 | 24 | 12 |
| c.718C>T | 8 | p.Q240X | 23 | 1 | 1 |
| c.821C>T | 9 | p.L274P | Novel | 1 | 1 |
| c.1475A>G | 16 | p.H492R | 24 | 2 | 1 |
| c.1771C>T | 19 | p.R591X | 24 | 3 | 2 |
| c.1873G>C | 21 | p.C625S | Novel | 1 | 1 |
| c.2224C>A | 25 | p.Q742K | Novel | 1 | 1 |
| c.2303T>C | 26 | p.L768P | 12 | 2 | 1 |
| c.2639G>A | 28 | p.R880Q | 23 | 1 | 1 |
| c.2641 C>T | 28 | p.Q881X | Novel | 1 | 1 |
| c.2851C>T | 29 | p.R951W | 26 | 1 | 1 |
| c.3164G>T | 32 | p.R1055L | 24 | 1 | 1 |
| c.3239G>A | 32 | p.R1080Q | 26 | 1 | 1 |
| c.3913C>T | 39 | p.L1305F | 23 | 3 | 3 |
| c.4130C>G | 41 | p.S1377X | 19 | 1 | 1 |
| c.4198C>T | 42 | p.R1800C | 23 | 2 | 2 |
| Small insertions/ deletions, 54 (41.5%) | |||||
| c.50delG | 1 | p.G17AfxX26 | Novel | 1 | 1 |
| c.233_236delTTGA | 3 | p.I78TfsX16 | Novel | 2 | 2 |
| c.238delT | 3 | p.C80VfsX14 | Novel | 2 | 1 |
| c.284delG | 4 | p.G95AfsX42 | Novel | 1 | 1 |
| c.987_990delTCAC | 11 | p.H330AfsX4 | 24 | 1 | 1 |
| c.1115_1118delTTGG | 13 | p.V372AfsX42 | 27 | 10 | 10 |
| c.1147delG | 13 | p.E383RfsX32 | Novel | 1 | 1 |
| c.1703delT | 18 | p.V568AfsX36 | Novel | 2 | 2 |
| c.2535_2536delCT | 27 | p.C846QfsX19 | 12 | 2 | 2 |
| c.3558insG | 36 | p.R1187E fsX28 | 28 | 8 | 7 |
| c.3788_3790delTCT | 38 | p.F1263del | 24 | 22 | 17 |
| c.4123_4139del17 | 41 | p.T1375WfsX43 | Novel | 1 | 1 |
| c.4124_4125delCA | 41 | p.T1375SfsX48 | 23 | 1 | 1 |
| Splicing mutations, 8 (6.2%) | |||||
| c.709 + 5 G>A | 7 | D237G+238ins10 (AFMTRCGFLD) | 29 | 1 | 1 |
| c.709 + 5G>T | 7 | D237G+238ins10 (AFMTRCGFLD) | 30 | 1 | 1 |
| c.710-5T>C | 8 | Altered splicing | 23 | 1 | 1 |
| c.893 + 1G>T | 10 | Exon 10 skipping | 28 | 1 | 1 |
| c.893 + 920 C>A | 10 | Altered splicing | Novel | 1 | 1 |
| c.1470 + 1G>T | 15 | Exon 15 skipping | Novel | 1 | 1 |
| c.3348 + 5 G>A + 3335 T>G | 33 | Exon 33 skipping | Novel | 1 | 1 |
| c.3828 + 1G>T | 38 | Exon 38 skipping | Novel | 1 | 1 |
| Large deletions, 20 (15.4%) | |||||
| ex1-3del | — | — | 23 | 1 | 1 |
| ex1-6del | — | — | 23 | 1 | 1 |
| ex1-20del | — | — | Novel | 2 | 2 |
| ex3del | — | — | 14 | 2 | 1 |
| ex4-5del | — | — | 19 | 2 | 2 |
| ex4-6del | — | — | 23 | 2 | 1 |
| ex6-14del | — | — | 25 | 1 | 1 |
| ex15-43del | — | — | Novel | 1 | 1 |
| ex16-17del | — | — | 27 | 1 | 1 |
| ex18-20del | — | — | 23 | 1 | 1 |
| ex19-21del | — | — | 23 | 1 | 1 |
| ex21-22del | — | — | Novel | 1 | 1 |
| ex21-29del | — | — | Novel | 3 | 3 |
| ex28-29del | — | — | Novel | 1 | 1 |
| Total | 130 |
— indicates not applicable.