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. Author manuscript; available in PMC: 2015 Apr 27.
Published in final edited form as: J Natl Cancer Inst. 2008 May 27;100(11):784–795. doi: 10.1093/jnci/djn157

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.