Table 3.
Sequence variants identified in p16INK4A/p14ARF and p53
Gene | Nucleotide change1 | db SNP minor allele frequency2 | Protein change | Minor allele frequency in the 101 cases (n)* |
---|---|---|---|---|
P16INK4A/P14ARF | 19652 C>T | - | synonymous | 0.005 (1) |
rs3731249: 23575 G>A | 0.017 | A148T | 0.030 (6) | |
rs11515: 26292 G>C | 0.125 | synonymous | 0.129 (26) | |
rs3088440: 26332 C>T | 0.103 | synonymous | 0.054 (11) | |
P53 | rs1042522: 11392 C>G | 0.233 | P72R | 0.262 (53) |
11432 T>C | - | synonymous | 0.005 (1) | |
12407 G>A | - | R158H | 0.005 (1) | |
rs1800372 12654 A>G | 0.016 | synonymous | 0.025 (5) |
Nucleotide position is taken from the GenBank reference file, dbSNP accession number shown where available.
In Caucasians.
P-values for comparison of minor allele frequencies in cases with those obtained from dbSNP all >0.1.