Summary of C/EBPα mutations detected in patient samples
| Patient sample by cancer type . | ID no. . | Karyotype . | Region . | Mutation . | Protein . | Function . |
|---|---|---|---|---|---|---|
| AML-M2 | K-6 | ND | 4 | 1063G > C | Arg305Pro | ND |
| AML-M2 | J6 | ND | 4 | 3-bp duplication of nt 1083-1085 | Inframe duplication of Lys312 | ND |
| AML-M2 | J3 | ND | 4 | 15-bp duplication of nt 1083-1097 | Inframe duplication of Lys-Val-Leu-Glu-Leu | Loss of DNA binding and transcriptional activation |
| AML-M2 | J2 | ND | 4 | 1001C > A | Nonsense codon at Tyr284 | ND |
| AML-M2 | F3820 | 46XY | 1 | 1-bp deletion of C381 | Frameshift at Phe77 | ND |
| AML-M2 | F3820 | 46XY | 4 | 24-bp duplication of nt 1062-1085 | Inframe duplication of Arg-Asn-ValGlu-Thr-Gln-Gln-Lys | Loss of DNA binding and transcriptional activation |
| AML-M4 | F3901 | 46XX d(9q22) | 4 | 3-bp deletion of nt 1083-1085 | Inframe deletion of Lys312 | Loss of DNA binding and transcriptional activation |
| AML-M4 | F4431 | 46XX | 2 | 551G > A | Silent | ND |
| MDS (RAEB-t) | F3881 | 46XY | 2 | 37-bp duplication of nt 483-519 | Frameshift at Ala134 | ND |
| MDS (RAEB-t) | F3881 | 46XY | 4 | 1015G > T | Nonsense codon at Glu290 | ND |
| Prostate | 202 | ND | 2 | 551G > A | Silent | ND |
| Lung (squamous) | 188 | ND | 4 | 1087G > A | Silent | ND |
| Patient sample by cancer type . | ID no. . | Karyotype . | Region . | Mutation . | Protein . | Function . |
|---|---|---|---|---|---|---|
| AML-M2 | K-6 | ND | 4 | 1063G > C | Arg305Pro | ND |
| AML-M2 | J6 | ND | 4 | 3-bp duplication of nt 1083-1085 | Inframe duplication of Lys312 | ND |
| AML-M2 | J3 | ND | 4 | 15-bp duplication of nt 1083-1097 | Inframe duplication of Lys-Val-Leu-Glu-Leu | Loss of DNA binding and transcriptional activation |
| AML-M2 | J2 | ND | 4 | 1001C > A | Nonsense codon at Tyr284 | ND |
| AML-M2 | F3820 | 46XY | 1 | 1-bp deletion of C381 | Frameshift at Phe77 | ND |
| AML-M2 | F3820 | 46XY | 4 | 24-bp duplication of nt 1062-1085 | Inframe duplication of Arg-Asn-ValGlu-Thr-Gln-Gln-Lys | Loss of DNA binding and transcriptional activation |
| AML-M4 | F3901 | 46XX d(9q22) | 4 | 3-bp deletion of nt 1083-1085 | Inframe deletion of Lys312 | Loss of DNA binding and transcriptional activation |
| AML-M4 | F4431 | 46XX | 2 | 551G > A | Silent | ND |
| MDS (RAEB-t) | F3881 | 46XY | 2 | 37-bp duplication of nt 483-519 | Frameshift at Ala134 | ND |
| MDS (RAEB-t) | F3881 | 46XY | 4 | 1015G > T | Nonsense codon at Glu290 | ND |
| Prostate | 202 | ND | 2 | 551G > A | Silent | ND |
| Lung (squamous) | 188 | ND | 4 | 1087G > A | Silent | ND |
RAEB-t indicates refractory anemia with excess of blasts in transformation; ND, not determined; bp, base pair; and nt, nucleotide. For other abbreviations, see Table 1.