Summary of APC sequence alterations identified in FAP and non-FAP patients
| Exon | Codon | Nature | Alteration | Consequence | Family No |
|---|---|---|---|---|---|
| 4 | 177 | Deletion | T | Frameshift (7, TGA) | 162 |
| 5 | Splice site | Base substitution | g to t (−1) | Frameshift (7, TGA) | 9 |
| 5 | Splice site | Base substitution | g to a (−1) | Frameshift (7, TGA) | 101, 178, 233 |
| 6 | 232 | Base substitution | C to T | Arg to stop (TGA) | 42, 122, 149 |
| 6 | 233 | Base substitution | C to T | Gln to stop (TAG) | 142 |
| 7 | 278 | Base substitution | C to T | Gln to stop (TAG) | 8 |
| 8 | 283 | Base substitution | C to T | Arg to stop (TGA) | 17, 38, 120, 121, 155, 156, 199, 201, 220 |
| 10 | 452 | Insertion | TG | Frameshift (2, TAA) | 60 |
| 10 | 456 | Deletion | TTTCA | Frameshift (2, TGA) | 69 |
| 10 | 457 | Base substitution | C to A | Ser to stop (TAA) | 5 |
| 11 | Splice site | Base substitution | g to a (−1) | 187 | |
| 11 | 495 | Insertion | A | Frameshift (41, TAA) | 215 |
| 11 | 486 | Base substitution | C to G | Tyr to stop (TAG) | 21 |
| 11 | 500 | Base substitution | C to T | Arg to stop (TGA) | 33 |
| 12 | 527 | Deletion | AGCACTTGTG | Frameshift (4, TAA) | 56 |
| 12 | 541 | Base substitution | C to T | Gln to stop (TAG) | 179, 200 |
| 13 | 564 | Base substitution | C to T | Arg to stop (TGA) | 40 |
| 14 | 585 | Deletion | C | Frameshift (5, TGA) | 246 |
| 14 | 609 | Deletion | G | Frameshift (1, TAG) | 57 |
| 14 | 625 | Base substitution | C to T | Gln to stop (TAG) | 62, 231 |
| 14 | 640 | Deletion | G | Frameshift (5, TGA) | 137 |
| 14 | 648 | Insertion | A | Frameshift (2, TGA) | 131 |
| 14 | Splice site | Base substitution | t to g (+2) | 51 | |
| 15A | 657 | Deletion | A | Frameshift (13, TAA) | 54 |
| 15B | 764 | Base substitution | T to A | Leu to stop (TAA) | 27 |
| 15B | 770 | Insertion | A | Frameshift (4, TGA) | 99 |
| 15C | 931 | Deletion | TTCA | Frameshift (23, TAG) | 63 |
| 15C | 934 | Deletion | TTAC | Frameshift (20, TAG) | 97 |
| 15C | 935 | Base substitution | C to A | Tyr to stop (TAA) | 22 |
| 15C | 935 | Base substitution | C to G | Tyr to stop (TAG) | 150 |
| 15C | 935 | Insertion | A | Frameshift (1, TAA) | 10 |
| 15D | 964 | Insertion | A | Frameshift (16, TGA) | 163 |
| 15D | 1023 | Insertion | T | Frameshift (5, TAG) | 37 |
| 15E | 1045 | Base substitution | C to T | Gln to stop (TAG) | 18, 144 |
| 15E | 1057 | Base substitution | A to G | Aspartic acid to glycine | 133 |
| 15E | 1057 | Deletion | A | Frameshift (4, TAA) | 140 |
| 15E | 1061 | Deletion | ACAAA | Frameshift (2, TGA) | 6, 14, 25, 29, 110, 136, 138, 146, 175, 186, 193 |
| 15E | 1068 | Deletion | TCAA | Frameshift (57, TAA) | 16, 141 |
| 15E | 1122 | Deletion | AATC | Frameshift (3, TAA) | 1 |
| 15F | 1152 | Base substitution | C to T | Gln to stop (TAG) | 95 |
| 15F | 1171 | Base substitution | C to T | Arginine to cysteine | 102 |
| 15F | 1182 | Deletion | A | Frameshift (83, TAG) | 47 |
| 15F | 1193 | Deletion | CA | Frameshift (5, TAA) | 164 |
| 15F | 1198 | Base substitution | C to G | Ser to stop (TGA) | 96 |
| 15F | 1198 | Insertion | A | Frameshift (5, TAG) | 189 |
| 15G | 1309 | Deletion | AAAGA | Frameshift (4, TAG) | 2, 3, 32, 43, 106, 116, 135, 200, 208, 225 |
| 15H | 1395 | 2 deletions | A and T | Frameshift (2, TGA) | 44 |
| 15H | 1449 | Base substitution | A to T | Lys to stop (TAG) | 52 |
| 15H | 1450 | Base substitution | C to T | Arg to stop (TGA) | 24 |
| 15H | 1465 | Deletion | G | Frameshift (8, TAA) | 147 |
| 15H | 1493 | Deletion | A | Frameshift (14, TGA) | 92 |
| 1822 | Base substitution | A to T | Asparagine to valine | 87, 89, 160 | |
| 15V | 2738 | Base substitution | T to C | Isoleucine to threonine | 1 |
| PTT2 | 658-1283 | Stop | 15 families | ||
| PTT3 | 1099-1701 | Stop | 6 families | ||
| PTT4 | 1545-2338 | Stop | 2 families |
Information concerning exon, codon, nature, nucleotide alteration, and consequence is given for each characterised mutation. Types of termination signal and position of downstream stop codon caused by frameshift mutations are given in parentheses. The number of families with truncated protein products identified within each PTT segment is shown at the bottom of the table.