Mutations in the CBP gene in breast and ovarian tumours
| Mutation type | Amino acid change | Tumour sample | Protein domain | Germline/somatic | CBPallele status |
|---|---|---|---|---|---|
| HATD, histone acetyltransferase domain; NTD, N terminal transactivation domain; CTD, C terminal transactivation domain; GR, Gln rich region; CBD, CREB binding domain; KIX, KID interacting domain. | |||||
| Frameshift/truncation | |||||
| 765delC | L297X | ov623 | NTD | Somatic | LOH |
| 4675delA | L1548X | ov519A | HATD | Somatic | LOH |
| Missense | |||||
| 1597G→A | A467T | ov519A | CBD | Somatic | LOH |
| 2876C→T | S893L | BT0167 | ? | ? | |
| 3409G→A | A1081T | OVCAR5 | ? | ? | |
| 4259C→T | A1354V | ov51 | HATD | Somatic | LOH |
| 6130A→G | N1978D | ov735 | GR and CTD | Germline | LOH |
| 6130A→G | N1978D | B110 | GR and CTD | ? | ? |
| Silent | |||||
| 2151T→C | Y651Y (polymorphism) | B73, B143, B103, ov519A, and ov141 | CBD and KIX | ||
| 2755C→T | L852L | BT0167 | |||
| 3171C→T | D1049D | B73 and ov323 | |||
| 5250C→T | S1741S | B78 | HATD | ||
| 5634C→G | T1812T | B93 | |||
| 5651G→A | V1818V (polymorphism) | ov542, ov985, ov177, and OV177 | HATD | ||
| 7047C→T | S2283S | MDA463 | |||
| 7410A→G | E2404E | ov182 | |||
| 3′-UTR | |||||
| 7552insC | – | B61 | 3′-UTR | ||
| 7549T→C | – | UACC812 | 3′-UTR | ||
| 7610C→A | – | B113 | 3′-UTR | ||
| 7631G→A | – | B92 | 3′-UTR | ||
| Intronic | |||||
| IVS2−31A→G | – | B80 and B101 | |||
| IVS5−33G→T | – | B81 | |||
| IVS8−39delA | – | B92 and ov69 | |||
| IVS9−24A→G | – | MDA468 | |||
| IVS17−16delTTT | – | ov647 | |||
| IVS21−8C→T | – | B81, B96, and UACC812 | |||
| IVS27+37A→C | – | ov742 | |||
| IVS27+46G→A | – | ov742 | |||
| IVS28−15C→T | – | B80 | |||
| IVS28−14G→C | – | ov990 | |||
| IVS28−14G→C | – | MDA361 | |||
| IVS28−12C→G | – | ov526 | |||