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. Author manuscript; available in PMC: 2014 Jan 16.
Published in final edited form as: Leukemia. 2008 Jan 24;22(5):1044–1052. doi: 10.1038/leu.2008.4

Table 5.

Coding mutations in TP53 and N- or K-RAS in PCL that influence protein function and prevalence in other tumors

TP53 mutations
Leukemia TP53 exon Codon change Predicted amino-acid change p53 structural motifa Structure function predictionb,c Mutant p53 transactivation activityb,d Number of mutations at codonb,e Percentage of known TP53b,e substitutions Cancers in which codon is commonly mutatedb,f(% of TP53 mutations at codon)
pPCL 5 TGC>TGG C141W NDBL/β-sheets Nonfunctional Nonfunctional 160 0.8 colon, ovarian, oesophagus (>1%); breast, hematopoietic (>0.5%)
pPCL 5 CTG>CCG L145P NDBL/β-sheets Nonfunctional Nonfunctional 59 0.3 prostate (>1%); lymphoid, pancreas, stomach (>0.5%)
pPCL 6 TAT>TGT Y220C NDBL/β-sheets Nonfunctional Nonfunctional 334 1.7 oropharyngeal, biliary, ovarian, pancreas, breast, hematopoietic, lymphoid, others (all >1%)
pPCL 7 TAC>TGC Y234C NDBL/β-sheets Nonfunctional Nonfunctional 178 0.9 bone, oropharyngeal, kidney, cervix, brain, ovary, lymphoid, hematopoietic, others (all > 1 %)
sPCL 8 CGT>TGT R273C L1/S/H2 Nonfunctional Nonfunctional 1471 7.4 penis (83%), nasophyngeal (27%), thyroid (15%), brain (15%), pancreas (12%); haematopoitic (6.1%), lymphoid (5.3%)
sPCL 8 TTT>TAT F270Y NDBL/β-sheets Nonfunctional Functional 101 0.5 lymph node (1.1%), oesophagus (0.8%), lung (0.75%), hematopoitic (0.4%)
sPCL 11 AAG > -AG (373delA) FS NA Nonfunctional NA NA NA NA
N- and K- RAS mutations
Leukemia RAS Exon Codon change Predicted aa change No.identical amino-acid substitutions in Sanger databaseg Cancers with identical mutation (no. of identical mutations per cancer in COSMIC databaseg)
pPCL K 1 GGT>GAT G12V 2422 Colon (966), pancreas (787), lung (384), ovary (90)
pPCL K 2 CCA>CAC Q61H 74 Colon (22), lung (21), pancreas (7), hematopoietic and lymphoid (6)
pPCL N 2 CCA>CGA Q61R 386 Skin (208), thyroid (97), hematopoietic and lymphoid (41)
sPCL K 1 GGT>GCT G12R 471 Pancreas (325), colon (53), lung (44), hematopoietic and lymphoid (6)
sPCL K 2 CCA>CAC Q61H 74 Colon (22), lung (21), pancreas (7), hematopoietic and lymphoid (6)
sPCL N 2 CCA>CGA Q61R 386 Skin (208), thyroid (97), hematopoietic and lymphoid (41)

Abbreviations: COSMIC, Catalog of Somatic Mutations in Cancer; FS, frameshift; IARC, International Agency for Research on Cancer; PCL, plasma cell leukemia; pPCL, primary PCL; sPCL, secondary PCL; WT, wild type.

a

Structural motifs described in Cho et al.32 and May and May.33

b

Data were obtained from the IARC p53 website (http://www-p53.iarc.fr/index.html).

c

Functional predictions were derived using a model that takes into account the three-dimensional structure of WTand mutant proteins and is trained on the transactivaton dataset from Kato et al.34

d

Functional classification of TP53 mutations based on the overall transcriptional activity on eight different promoters as measured by Kato et al.34

e

Number and percent of TP53 mutations that occur at the specified codon in the IARC database of 19 796 TP53 mutations.

f

Cancers that commonly target the specified codon for mutation and, per cancer, the percent of TP53 missense or nonsense mutations that involve the codon.

g

The data were obtained from the Sanger COSMIC, http://www.sanger.ac.uk/genetics/CGP/cosmic.