Patient No | Mutation location | Mutation type | Protein domain* |
---|---|---|---|
*Last column refers to numbers of the different fuctional domains of CBP given by Giles et al.9 NRBD: nuclear receptor binding domain; NTD: N-terminal transactivation domain; CBD: CREB binding domain; HATD: histone acetyltransferase domain; E1ABD: E1A binding domain - 3rd Cys/His rich region - 2nd zinc finger; GR: Gln rich region; CTD: C-terminal transactivation domain. Some of the mutations are not related to any protein domain since certain regions of the CBP gene have not been assigned to any functional domain. | |||
†Normal sequence ATACCCAATGGAGGAGAA. | |||
Mutated sequence: ATACCC - TCATCATGAGCTGATGGAGGAGAA. | |||
‡Normal sequence: ATCCAGTAAGTTAATTCAT. | |||
Mutated sequence : ATCCCA - - - - - TAATTCAT. | |||
§Missense mutation affecting the donor splice site (see Results section). | |||
Missense mutations | |||
29 | Exon 15 | A981T (GCA→ACA) | |
30 | Exon 31 | N1978S (AAC→AGC) | GR |
58 | Exon 31 | M2221L (ATG→CTG) | GR |
50 | Exon 31 | A2243V (GCC→GTC) | GR |
Nonsense mutations | |||
69 | Exon 1 | S23X (TCG→TAG) | NRBD |
40 | Exon 4 | R370X (CGA→TGA) | NTD |
75 | Exon 5 | R413X (CGA→TGA) | NTD |
18 | Exon 21 | K1269X (AAG→TAG) | HATD |
35 | Exon 27 | R1498X (CGA→TGA) | HATD |
64 | Exon 27 | Y1466X (TAT→TAA) | HATD |
57 | Exon 31 | Q2043X (CAG→TAG) | CTD |
8 | Exon 14 | 2827delC | |
39 | Exon 30 | 4945delA | E1ABD |
52 | Exon 2 | 138delA+ins13bp† | NRBD |
68 | Exon 3 | 840insT | NTD |
51 | Exon 10 | 2045insA | CBD |
33 | Exon 16 | 3096insT | |
Splice site mutations | |||
6 | Intron 27 | IVS27−5C→G | HATD |
44 | Intron 17 | del7bp+ins2bp‡ | |
12 | Intron 19 | IVS19+3A→T | HATD |
66 | Intron 25 | IVS25+2T→C | HATD |
65 | Exon 27 | K1520R§ (AAG→AGG) |