In a puzzling case, as it is mentioned above, the Ala to Val mutation reported by Sandgren et al., the mutated residue is spatially distant from the active site (~20 Å) [ 17].
The predominant mutation reported is a single transversion in exon 15 (T1799A).
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.
From the array data, calls could be made for ∼97.5% of the bases, and false positive rates were very low with only a single mutation reported from the array dataset for which the corresponding dideoxy trace had a clean wildtype sequence.
Simon Fisher, a geneticist at Oxford University's Wellcome Trust Centre for Human Genetics whose lab discovered the KE family's FOXP2 mutation, reported last year that FOXP2 turned down CNTNAP2, which in turn had a significant link to a language impairment that compromises a person's ability to use and understand words.
Case 15 was a homozygous carrier of the 157C>T mutation, reported earlier [14] [16].
The new mutation reported here should be added to the long list of pathogenic variations described in the PYGM gene.
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].
In contrast to the SMC1 mutations, for the only SMC3 coil mutation reported for CdLS patients (E488Del), COILS predicts it will not impact the coil negatively.
Although the N-propeptide domain is very highly conserved, this mutation is only the third mutation reported in this domain [10], [11].
These results conflict with the high rate of NS3 gene mutation reported in a recent study of the full-genomic sequences of several DEN-3 clinical isolates [32].
