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This mutation is reported to destabilize the tetrameric structure of p53.
This mutation is reported only once in the BIC database.
This mutation is reported in most studies, one of the studies in Taiwan reported 54.9% of mutations in codon 531 [ 42].
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Although this mutation was reported in clinical cases (Drepper et al., 2011; Lai et al., 2011), the underlying pathogenic mechanism was unknown.
Initially, Drosophila homozygous for this mutation were reported as being sensitive to ionizing radiation.
This mutation was reported in a significant proportion of breast hyperplasia [ 1] and also in the majority of invasive cancers and all metastases tested [ 2, 3].
Recently a Mexican family of Spanish origin with three FHHNC-affected sisters homozygous for this mutation was reported, which suggests a remote common ancestor [ 42].
Before this mutation was reported, Laville et al. [ 10] had investigated the effect of the corresponding QTL in Belgian Texel sheep.
This mutation was reported once and only vaguely mentioned in the original work, additionally symptoms observed in both patients differ (Amiot et al. 2009).
We believe that this mutation was reported in the reverse direction and therefore not a true representation of codon 64 and the polymorphism we observe within our dataset.
This second mutation was reported to be a purRS super-repressor mutation.
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