Table 2. Mutations in p16 and ARF detected in a set of 60 human melanomas*,†.
Nucleotide | Amino acid change(s) in p16 | Amino acid change in ARF | Previous report in somatic cells | Previous report in germline cells |
---|---|---|---|---|
c.43_46del4‡ | All downstream of Asp14 | None | Caldas, 1994 (36) | None |
c.143C>T | Pro48Leu | None | Gretarsdottir, 1998 (37) | Platz, 1997 (8) |
c.172C>T | Arg58Stop | Pro72Leu | Cairns, 1994 (38) | Hussussian, 1994 (26) |
c.238C>T | Arg80Stop | Pro94Leu | Gruis, 1995 (39) | None |
c.242C>A | Pro81His | Arg96Ser | None | None |
C = cytosine; T = thymine; A = adenine; Pro = proline; Leu = leucine; Arg = arginine; His = histidine; Ser = serine
Also identified but not included were a silent mutation, c.387C>T, in p16 and not affecting ARF (n = 1), and the c.442G>A (Ala148Thr) polymorphism (n = 10). ARF amino acids are from Stott et al. (35).
Sequence for the c.43_46del4 microdeletion identified in p16 exon 1α reads 5′-TGGCTGGC-3′. It can alternately be described as c.47_50del4. Sequence alteration results in a frameshift.