Table 2 of
Tsai, Mol Vis 2005;
11:50-55.Table 2 of
Tsai, Mol Vis 2005;
11:50-55.
Table 2. Mutation spectrum in exons 4 to 8 of p53 gene
P53 mutations were detected in 8 pterygial samples and each sample had only one form of mutation. Three mutations occurred in exon 6, 2 in exon 7, and 1 in each of exons 4, 5, and 8. All eight mutations were point mutations, with 6 mutations being substitutions and 2 being deletions. The 6 substitutions were missense and the two deletions resulted in a frame shift.
Mutation
---------------------------------------------------------
Exon n (%) Spectrum Effect
---- --------- ------------------------ ------------------
4 1 (12.5%) codon 117, 1 bp deletion frame shift
5 1 (12.5%) codon 179, C:G->T:A CAT(His)->TAT(Tyr)
6 3 (37.5%) codon 208, A:T->T:A GAC(Asp)->GTC(Val)
codon 213, G:C->C:G CGA(Arg)->CCA(Pro)
codon 213, G:C->T:A CGA(Arg)->CTA(Leu)
7 2 (25%) codon 234, T:A->A:T TAC(Tyr)->AAC(Asn)
codon 259, 1 bp deletion frame shift
8 1 (12.5%) codon 286, G:C->C:G GAA(Glu)->CAA(Gln)
|