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

Peltonen, Jenni K; Helppi, Henni M; Pääkkö, Paavo; Turpeenniemi-Hujanen, Taina; Vähäkangas, Kirsi H

doi:10.1186/1758-3284-2-36

Head & Neck Oncology

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	NF^b NF^b
H&N 20	7 8	243 297	ATG>CTG CAC > TAC	Met > Leu His > Tyr	Leu aliphatic no change	L3 (D)	NF^b 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	NF^b
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	F^b F^b
H&N 16	5 7	130 245	CTC>TTC GGC > GAC	Leu > Phe Gly > Asp	aliphatic > aromatic polar > acidic	LSH L3 (D)	NF^b NF^b
H&N 4	5 8	184 283	-1G CGC > CCC	Frameshift Arg >Pro	+ charged > polar	H2 (LSH) (D)	NF^{b, d}
H&N 58	7	259	GAC > GAA	Asp > Glu	small > big	L	NF^b
H&N 53	5	172	GTT > GCT	Val > Ala	hydrophobic > polar	L2 (S)	F^b
H&N 64	7	238	TGT > TCT	Cys > Ser	hydrophobic > polar	L3 (D)	NF^b
H&N 63	6	189	GCC > GTC	Ala > Val	polar > hydrophobic	L2 (S)	F^b
H&N 51	7	259	GAC > GAA	Asp > Glu	small > big	L	NF^b
H&N 54	7	259-260	GACTCC > GATCCC	Asp, Ser > Asp, Pro	no change	L	NF^d
H&N 56	8	275	TGT > TAT	Cys > Tyr	small > big, aromatic	LSH	NF^b
H&N 46	6	217	GTG > GCG	Val > Ala	hydrophobic > polar	S7	F^b
H&N 43	5	155 175	ACC>TCC CGC > CAC	Thr > Ser Arg > His	no change + charged > big, aromatic	L L2 (S)	F^b 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 NF^b
H&N 69	5 6	148 221	GAT>GAG GAG > GAC	Asp > Glu Glu > Asp	small > big big >small	L L	F^b F^b

a) D = mutation at the DNA contact site, S = structural mutation (according to the IARC classification)
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

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