From: PIN3 duplication may be partially responsible for TP53haploinsufficiency
No. | Diagnosis | TP53mutations | PIN3 status | 72 codon status | ||
---|---|---|---|---|---|---|
Location/type | cDNA | DNA | ||||
TP53 mutations; cases showing discrepancies between cDNA and DNA | ||||||
1 | Glioblastoma | MT1 175; CGC > CAC; Arg > His | MT1 > MT2 | MT1 = MT2 | A1/A2 | C/G |
MT2 282; CGG > TGG; Arg > Trp | ||||||
2 | Glioblastoma | 237; ATG > ATA; Met > Ile | MT | WT > MT | A1/A2 | C/G |
3 | Glioblastoma | 273; CGT > CAT; Arg > His | MT | WT > MT | A1 | C |
4 | Glioblastoma | 234; TAC > CAC; Tyr > His | MT | WT > MT | A1 | G |
5 | Glioblastoma | 273; CGT > TGT; Arg > Cys | MT | WT > MT | A1 | G |
6 | Glioblastoma | 190; CCT > TCT; Pro > Ser | MT | WT = MT | A1 | G |
7 | Glioblastoma | 152; CCG > CTG; Pro > Leu | MT | WT = MT | A2 | C |
8 | Glioblastoma | 273; CGT > TGT; Arg > Cys | MT | WT = MT | A2 | G |
9 | Glioblastoma | 237; ATG > ATA; Met > Ile | MT | MT > WT | A1 | C |
10 | Glioblastoma | 161; GCC > ACC; Ala > Thr | MT | MT > WT | A2 | C/G |
11 | Soft tissue sarcoma | 248; CGG > CAG; Arg > Gln | MT | WT | A1 | G |
12 | Soft tissue sarcoma | 273; CGT > TGT; Arg > Cys | MT | WT = MT | A1 | G |
13 | Soft tissue sarcoma | 216; GTG > ATG; Val > Met | MT | MT > WT | A1/A2 | C/G |
14 | Colorectal cancer | 173; GTG > ATG; Val > Met | MT | MT > WT | A1 | G |
15 | Colorectal cancer | 248; CGG > TGG; Arg > Trp | MT | WT | A1 | C/G |
16 | Colorectal cancer | 175; CGC > CAC; Arg > His | MT | WT = MT | A1 | G |
17 | Colorectal cancer | 273; CGT > CAT; Arg > His | MT > WT | WT = MT | A1 | G |
18 | Colorectal cancer | 285; GAG > AAG; Glu > Lys | MT > WT | WT | A1 | G |
19 | Colorectal cancer | 245; GGC > AGC; Gly > Ser | MT | WT > MT | A2 | C |
20 | Colorectal cancer | 248; CGG > CAG; Arg > Gln | MT | WT > MT | A1/A2 | C/G |
21 | Colorectal cancer | 273; CGT > CAT; Arg > His | MT > WT | WT > MT | A1/A2 | C/G |
22 | Colorectal cancer | 282; CGG > TGG; Arg > Trp | MT | WT > MT | A1 | G |
23 | Colorectal cancer | 245; GGC > AGC; Gly > Ser | MT = WT | WT > MT | A1 | G |
24 | Colorectal cancer | 216; GTG > ATG; Val > Met | MT > WT | WT = MT | A1 | G |
25 | Colorectal cancer | 245; GGC > AGC; Gly > Ser | MT = WT | WT > MT | A1 | G |
26 | Colorectal cancer | 175; CGC > CAC; Arg > His | MT | WT = MT | A1 | G |
27 | Colorectal cancer | 175; CGC > CAC; Arg > His | MT | MT > WT | A2 | C/G |
28 | Leukemia (AML) | 216; GTG > ATG; Val > Met | MT | WT | A1 | C/G |
29 | Leukemia (AML) | 267; CGG > GGG; Arg > Gly | MT = WT | WT | A1 | C/G |
30 | Prostate cancer | 239; AAC > GAC; Asn > Asp | MT | WT = MT | A1/A2 | C/G |
TP53 mutations; no discrepancies between DNA and cDNA sequencing | ||||||
31 | Glioblastoma | 214; AGT > AAT; Ser > Asn | WT = MT | WT = MT | A1 | G |
32 | Glioblastoma | 282; CGG > TGG; Arg > Trp | WT = MT | WT = MT | A1 | G |
33 | Astrocytoma | 179; CAT > GAT; His > Asp | WT = MT | WT = MT | A1 | C/G |
34 | Glioblastoma | 267; CGG > TGG; Pro > Trp | WT = MT | WT = MT | A1 | C/G |
35 | Glioblastoma | 173; GTG > TTG; Val > Leu | WT = MT | WT = MT | A1 | G |
36 | Glioblastoma | 273; CGT > TGT; Arg > Cys | WT = MT | WT = MT | A1 | G |
37 | Glioblastoma | 190; CCT > CTT; Pro > Leu | WT = MT | WT = MT | A2 | C |
38 | Glioblastoma | 145; CTG > CAG; Leu > Gln | MT | MT | A1 | C |
39 | Soft tissue sarcoma | 273; CGT > TGT; Arg > Cys | WT = MT | WT = MT | A1 | G |
40 | Soft tissue sarcoma | 215; AGT > AAA; Ser > Lys | MT > WT | MT > WT | A1 | C/G |
41 | Soft tissue sarcoma | 248; CGG > CAG; Arg > Gln | MT | MT | A1 | G |
42 | Soft tissue sarcoma | 173; GTG > TTG; Val > Leu | MT | MT | A1/A2 | C/G |
43 | Colorectal cancer | 273; CGT > CAT; Arg > His | WT = MT | WT = MT | A1 | C |
44 | Colorectal cancer | 134; TTT > CTT; Phe > Leu | WT = MT | WT = MT | A1 | C/G |
45 | Colorectal cancer | 175; CGC > CAC; Arg > His | WT = MT | WT = MT | A1 | C/G |