Table 2.
Patient-derived LCLs used in the functional studies and their corresponding nontruncating FANCA mutations on one or both alleles
| Patient ID | Mutation 1 |
Mutation 2 |
||
|---|---|---|---|---|
| DNA | Protein | DNA | Protein | |
| FA5 | c. 4198C>T (Ex 42) | p.R1800C | T* | |
| FA40 | c.1475A>G (Ex 16) | p.H492R | c.1475A>G (Ex 16) | p.H492R |
| FA56 | c.3913C>T (Ex 39) | p. L1305F | T | |
| FA58 | c.821C>T (Ex 9) | p. L274P | T | |
| FA75 | c.3788_3790delTCT (Ex 38) | p.F1263del | c.2639G>A (Ex 28) | p.R880Q |
| FA82 | c.3788_3790delTCT (Ex 38) | p.F1263del | c.709 + 5G>T (Ex 7) | p.D237G+238ins10 (AFMTRCGFLD) |
| FA88 | c.709 + 5G>A (Ex 7) | p.D237G+238ins10 (AFMTRCGFLD) | T | |
| FA91 | c.2224C>A (Ex 25) | p. Q742K | T | |
| FA155 | c.3788_3790delTCT (Ex 38) | p.F1263del | T | |
| FA170 | c.3788_3790delTCT (Ex 38) | p.F1263del | T | |
| FA328 | c.2303T>C (Ex 26) | p. L768P | c.2303T>C (Ex 26) | p. L768P |
*
T indicates truncating mutation.