The CAN1 marker used as a primary screen for mutator alleles has been sequenced extensively to describe the mutational spectrum of mutator alleles (Huang et al. 2003).
Conclusions: Our experience contribute to the growing amount of data on NIPBL-related copy number variations in patients with CdLS, supports the clinical usage of NIPBL deletion/duplication analysis in patients with negative NIPBL results by sequencing and widens the mutational spectrum of NIPBL mutations.
The mutational spectrum of these mutations has recently been described (Lee et al. 2012).
A total of 159 mutated positions relative to the reference sequence [40] were detected and analyzed in the network, including 104 nucleotide changes in the coding regions: the count of each kind of mutation is important in order to understand the mutational spectrum of the molecule and identify mutational hotspots.
With 35 independent synonymous mutations, we were also able to examine the mutational spectrum of base substitutions.
In conclusion, our previous and present results support that deleterious intragenic rearrangements in MEFV, MVK, NLRP3 and TNFRSF1A are rare or absent from the mutational spectrum of hereditary recurrent fevers, suggesting that other mutations in seemingly affected patients should be searched for either in other gene regions (e.g. promoter and introns) or in other candidate genes.
We reasoned that examining the mutational spectrum of patients with intellectual disability and the mutations related to carcinogenesis may shed light on whether the patients with intellectual disability might be predisposed to tumor development.
This could bias the mutational spectrum of a gene towards micro-adaptive changes, as mutations at less important sites are more likely to produce functional proteins with slightly altered optima.
According to the Human Gene Mutation Database, the mutational spectrum of the HPRT locus contains more than 300 mutations and over 165 (76%) were reported to be in the coding region.
The mutational spectrum of the gene includes nonsense, splicing, insertion, and deletion mutations, resulting in the Aniridia disease.
However, using only SNPs with an MAF lower than 0.15 in the sequenced population, and under the assumption that the direction of mutation is from the reference allele to the minor allele, the mutational spectrum of CRt was investigated.
