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Details on Person A germline mutation affecting exon 1beta of the CDKN2A locus...
| Class:Id | Summation:9646301 |
|---|---|
| _displayName | A germline mutation affecting exon 1beta of the CDKN2A locus... |
| _timestamp | 2023-03-24 16:57:20 |
| created | [InstanceEdit:9646300] Orlic-Milacic, Marija, 2019-05-22 |
| modified | [InstanceEdit:9654136] Orlic-Milacic, Marija, 2019-07-16 [InstanceEdit:9654169] Orlic-Milacic, Marija, 2019-07-16 [InstanceEdit:9831738] Orlic-Milacic, Marija, 2023-03-24 |
| text | 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, with the first amino acid changed being valine at position 22, and ending with a premature stop codon at position 67. The mutant protein p14ARF V22Pfs*46 (p14ARF 60ins16) is unable to translocate to the nucleus and stabilize TP53 (Rizos, Puig et al. 2001). |
| (summation) | [FailedReaction:9646295] p14ARF mutant does not translocate to the nucleus [Homo sapiens] |
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No pathways have been reviewed or authored by A germline mutation affecting exon 1beta of the CDKN2A locus... (9646301)
