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One of these peaks corresponds to the cortactin-binding protein-2 domain, CortBP2, that was mutated in four genes, CTTNBP2NL (1 mutation), CTTNBP2 (2 mutations), FILIP1 (5 mutations), and FILIP1L (1 mutation).
In contrast, the disease-causing nsSNPs tend to be concentrated at structurally equivalent positions, with a significant excess of mutations occurring at positions mutated in four or more different protein kinases.
Here we report on DFNB59, a newly identified gene on chromosome 2q31.1 q31.3 mutated in four families segregating autosomal recessive auditory neuropathy.
CBFB, encoding core-binding factor beta subunit, was mutated in four ER+ tumors.
IRA1 or IRA2 were mutated in four unrelated evolved clones (3 missense, 1 nonsense).
Most importantly, the androgen response element (ARE I) in the proximal promoter was found mutated in four tumours and in the breast carcinoma cell line MCF-7.
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ACE2 was mutated in eight evolved clones; six of these mutations were nonsense mutations scattered through the open reading frame.
Although not typically mutated in pancreatic cancer, Pten was highly mutated in two recent screens for gene mutations that accelerate KrasG12D-driven pancreatic tumorigenesis.
The gene is persistently mutated in eight series, (three of which were driver mutations), followed by ten genes mutated in seven series.
Protein-altering mutations were detected in 761 genes, of which 42 were mutated in two or more of the 24 tumors.
The protein translocase gene secY was mutated in seven of thirteen evolved isolates, totaling six amino acid mutations and one in-frame deletion.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com