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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