The frameshift mutation is caused by a nucleotide duplication either at position NC_000007.14:g.5527775dup in patient 6 (Latham et al., 2018) or at position NC_000007.14:g.5527779dup in patient XXIV. Both nucleotide duplications lead to the same change in protein sequence starting after residue...
For example,sickle-cell diseaseis caused by a single point mutation (a missense mutation) in the beta-hemoglobin gene that converts a GAG codon into GUG, which encodes the amino acid valine rather than glutamic acid. What disease is caused by silent mutation? Likewise, silent mutations that c...
Coding region frameshift mutation caused by microsatellite instability (MSI) is one mechanism contributing to tumorigenesis in cancers with MSI in high frequency. Mutation of TGFBR2 is one example of this process. To identify additional examples, a large-scale genomic screen of coding region ...
A frameshift mutation is a type of mutation involving the insertion or deletion of a nucleotide in which the number of deleted base pairs is not divisible by three. From:Realizing the Promise of Precision Medicine,2018 Also in subject areas: ...
Hereditary polyneuropathy:hereditary polyneuropathy is caused by dominant-negative frameshift mutation of the LRSAM1 gene. Effects of frameshift mutation:Frameshift mutations may be beneficial, deleterious, or lethal. For example, induction of frameshift mutation has been used to make certain bacteria capabl...
Related to frameshift mutation:point mutation,missense mutation frame·shift mutation (frām′shĭft′) n. A mutation in a DNA chain that occurs when the number of nucleotides inserted or deleted is not a multiple of three, so that every codon beyond the point of insertion or deletion is rea...
What is autosomal recessive mutation? What are acquired mutations? What type of mutation is caused by adding one nucleotide into the middle of a sequence? What are genetic imprinting mutations? What is germline mutation testing? On the molecular level, what exactly is a mutation?
Many different human diseases can result from a frameshift mutation. Tay Sachs disease, an inherited condition that typically results in death at a very young age, can be caused by a frameshift mutation. The genetic mutations can also be associated with the development of more common diseases, ...
Then, we performed the analysis of the PTCH1 by next-generation sequencing. This analysis showed a heterozygous frameshift mutation. Conclusion: This is the first case with a PTCH1 point mutation with a 9q22.3 microdeletion syndrome phenotype. This finding may strengthen the importance of the ...
Hereditary nonpolyposis colorectal cancer (HNPCC) is caused by a germline mutation in one of several DNA repair genes, which in the tumors is reflected as ... M Planck,E Wenngren,ke Borg,... - 《Genes Chromosomes & Cancer》 被引量: 560发表: 2000年 加载更多来源...