Because Gn and Gc are major immunogens of orthobunyaviruses (10), the mutation hot spot
was supposed to be involved in immune evasion mechanisms and/or adaption of the cell tropism within the individual host (7,9).
The only CFTR mutation hot spot
was in codon 556 (Ile556Val), and of the 13 patients with this substitution, 12 had HLP.
Mutation hot spot
for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-syndrome.
Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots
in the HGO gene.
The nonsense mutation hot spots
seem to center in exons 3 and 4 of the frataxin gene.
The p.R106C mutation occurs at CpG nucleotides, which are mutation hot spots
for genetic diseases.
In the following analysis, we focused on mitochondrial gene mutation hot spots
(59 sites), dominant optic atrophy gene (OPA1-8), external ophthalmoplegia and Wolfram (WFS) hotspot mutations, retinitis pigmentosa, macular degeneration-related genes, and rare sites including morning glory, small eye, and open-angle glaucoma.
Based on the findings from these patients, they then performed targeted sequencing of suspected mutation hot spots
in another 71 patients.
P53 gene mutation had many forms and multiple mutation hot spots
, but most of the mutation types were G-A and T-C.
Key mutation hot spots
identified include p.L536, p.Y537, and p.D538, which generate ligand-independent ER[alpha] transcriptional activity thought to be unresponsive to AIs (8-12).
For such mutation hot spots
, pyrosequencing provides the possibility to design a nucleotide dispensation order that increases the sensitivity of detection in combination with identification of all the relevant mutation variants.