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Table 3 Individual mutations and p53 protein function

From: p53 in head and neck cancer: Functional consequences and environmental implications of TP53mutations

Sample Exon(s) Muta-ted codon Mutation by sequencing AA change Change in properties Structural motif a Protein function
H&N 12 5
5
7
130
139
225
CTC>ATC
AAG>TGG
GTT > GCT
Leu > Ile
Lys > Trp
Val > Ala
no change
+charged > aromatic
hydrophobic >
polar
LSH
L
L
NF
ND
F
H&N 18 5 155 ACC >
AGCTGC
extra Cys small L ND
H&N 19 5
7
157
258
GTC>TTC
GAA > AAA
Val > Phe
Glu > Lys
hydrophobic, small >aromatic, big
-charge, acidic > +charge
S4
S9
NFb
NFb
H&N 20 7
8
243
297
ATG>CTG
CAC > TAC
Met > Leu
His > Tyr
Leu aliphatic
no change
L3 (D) NFb
ND
H&N 31 5 171 GAG > GAC Glu > Asp big >small L2 (S) F
H&N 29 7 259 GAC > GAA Asp > Glu small > big L NFb
H&N 32 5
8
171
271
GAG>GAC
GAG > TAG
Glu > Asp
Glu > stop
big >small L2 (S)
S10
F
ND
H&N 28 8 14496 16 bases deletion Frameshift mutation    ND
H&N 3 5
7
159
254
GCC >ACC
ATC > GTC
Ala >Thr
Ile > Val
no change
big > small
S4
S9
Fb
Fb
H&N 16 5
7
130
245
CTC>TTC
GGC > GAC
Leu > Phe
Gly > Asp
aliphatic > aromatic
polar > acidic
LSH
L3 (D)
NFb
NFb
H&N 4 5
8
184
283
-1G
CGC > CCC
Frameshift
Arg >Pro
+ charged > polar H2 (LSH) (D) NFb, d
H&N 58 7 259 GAC > GAA Asp > Glu small > big L NFb
H&N 53 5 172 GTT > GCT Val > Ala hydrophobic > polar L2 (S) Fb
H&N 64 7 238 TGT > TCT Cys > Ser hydrophobic > polar L3 (D) NFb
H&N 63 6 189 GCC > GTC Ala > Val polar > hydrophobic L2 (S) Fb
H&N 51 7 259 GAC > GAA Asp > Glu small > big L NFb
H&N 54 7 259-260 GACTCC >
GATCCC
Asp, Ser >
Asp, Pro
no change L NFd
H&N 56 8 275 TGT > TAT Cys > Tyr small > big, aromatic LSH NFb
H&N 46 6 217 GTG > GCG Val > Ala hydrophobic > polar S7 Fb
H&N 43 5 155
175
ACC>TCC
CGC > CAC
Thr > Ser
Arg > His
no change
+ charged > big, aromatic
L
L2 (S)
Fb
NF b, c
H&N 61 5 171 GAG > GAC Glu > Asp big >small L2 (S) F
Sample Exon(s) Muta-ted codon Mutation by sequencing AA change Change in properties Structural motif a Protein function
H&N 60 5
7
172
259
GTT>CTT
GAC > GAA
Val > Leu
Glu > Asp
small > big
big >small
L2 (S)
L
F
NFb
H&N 69 5
6
148
221
GAT>GAG
GAG > GAC
Asp > Glu
Glu > Asp
small > big
big >small
L
L
Fb
Fb
  1. a) D = mutation at the DNA contact site, S = structural mutation (according to the IARC classification)
  2. b) NF = non-functional protein according to functional assays by Kato et al. 2003 30 , F = functional protein according to functional assays by Kato et al. 2003 30, c) gain of function, d) mutations changing proline may also lead to an incorrectly folded protein due to the cyclic side chain of proline, ND = not determinable