p14ARF mutant does not translocate to the nucleus

Stable Identifier
R-HSA-9646295
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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A germline mutation affecting exon 1beta of the CDKN2A locus is associated with a familial melanoma syndrome. The mutation represents an insertion of 16 nucleotides (CGGCCCGCCGCGAGTG) between coding bases 60 and 61 in exon 1beta. This insertion results in a frameshift, starting at arginine codon at position 21 of p14ARF and ending with a premature stop codon at position 67. The mutant protein p14ARF R21RfsTER47 (p14ARF 60ins16) is unable to translocate to the nucleus and stabilize TP53 (Rizos, Puig et al. 2001).

Literature References
PubMed ID Title Journal Year
11571653 A melanoma-associated germline mutation in exon 1beta inactivates p14ARF

Rizos, H, Puig, S, Badenas, C, Malvehy, J, Darmanian, AP, Jiménez, L, Milà, M, Kefford, RF

Oncogene 2001
Participants
Participant Of
Normal reaction
Disease
Name Identifier Synonyms
cancer 162 malignant tumor, malignant neoplasm, primary cancer
Authored
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