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The tumor suppressor gene TP53 is the most frequently mutated gene in human cancer, and the germline TP53 R337H mutation is the most common mutation reported to date.
Arg175His is a p53 "hot-spot" structural mutation reported to have defects with respect to transcriptional activation and also to negatively interact with wild-type p53 [55].
The PB1 protein showed the P598L mutation reported to enhance polymerase activity in mammalian cells and mice (3 ).
Most HPSE2 mutations in UFS are predicted to be null mutations, with only one missense mutation reported to date (10).
The BTA20 region centres around a mutation reported to affect protein percentage in the GHR gene [ 34].
In all three cases of THBD mutation reported to date, aHUS recurred after kidney transplantation (KT) with early graft loss.
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The only mutations reported to date in Japanese patients with Oguchi disease, a rare form of stationary night blindness with autosomal recessive transmission, have been in the SAG (arrestin) gene.
It is notable that none of the MAP3K1 mutations reported to disrupt human testis development are truncating i.e. none encode early termination codons in the MAP3K1 polypeptide [13].
Mutations reported to date have been scattered across exons 1 8.
Copresence of mutations reported to be associated with NNRTIs confers significant increase to NVP resistance.
There were few other mutations reported to be associated with resistance in Stanford drug resistance database.
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