Mutations are changes in the DNA sequence of a cell's genome and are caused by radiation, viruses, transposons and mutagenic chemicals, as well as errors that occur during meiosis or DNA replication.

Mutations can have an impact on the phenotype of an organism, especially if they occur within the protein coding sequence of a gene.

Mutations are caused by radiation, viruses, transposons and mutagenic chemicals, as well as errors that occur during meiosis or DNA replication.

Mutations that deactivate p53 in cancer usually occur in the DBD.

Mutations can be caused by copying errors in the genetic material during cell division and by exposure to radiation, chemicals, or viruses, or can occur deliberately under cellular control during the processes such as meiosis or hypermutation.

Mutations occur mainly in exons 2, 3, 5 and 10.

Mutations generally occur in the DNA encoding the intracellular part ( exon 11 ), which acts as a tyrosine kinase to activate other enzymes.

Mutations in the exons 11, 9 and rarely 13 and 17 of the c-kit gene are known to occur in GIST.

Mutations within the dystrophin gene can either be inherited or occur spontaneously during germline transmission.

Mutations that occur early on in development will affect a greater number of cells and can result in an individual that can be identified as a mosaic strictly based on phenotype.

# Mutations occur in the same gene.

Mutations of tumor suppressor genes that occur in germline cells are passed along to offspring, and increase the likelihood for cancer diagnoses in subsequent generations.

Mutations in viral genes weakened their infectious ability, sometimes creating viruses that were able to infect and grow within only certain varieties of E coli.

Mutations within RNase MRP have been shown to cause cartilage-hair hypoplasia, a disease associated with an array of symptoms such as short stature, sparse hair, skeletal abnormalities and a suppressed immune system that is frequent among Amish and Finnish.

Mutations within the desmosome are the main cause of Arrhythmogenic right ventricular cardiomyopathy ( ARVC ).

Mutations within vWF are the usual cause of the most common inherited bleeding disorder, von Willebrand disease.

Mutations in the D-loop can effectively track recent and rapid evolutionary changes such as within species and among very closely related species.

Mutations in this gene give rise to XY females with gonadal dysgenesis ( Swyer syndrome ); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome.

* Brockington M., Yuva Y., Prandini P., Brown S. C., Torelli S., Benson M. A., Herrmann R., Anderson L. V. B., Bashir R., Burgunder J-M., Fallet S., Romero, N., Guicheney P., Fardeau M., Straub V., Reynolds G., Pollitt C., Sewry C. A., Bushby K., Voit T., Blake D. J. and Muntoni F. ( 2001 ) Mutations in the Fukutin Related-Protein gene ( FKRP ) identifies Limb Girdle Muscular Dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.

Mutations of the WT1 gene on chromosome 11 p 13 are observed in approximately 20 % of Wilms ' tumors .< ref > At least half of the Wilms ' tumors with mutations in WT1 also carry mutations in CTNNB1, the gene encoding the proto-oncogene beta-catenin.

Mutations in the ATP7A gene, located on chromosome Xq12-q13, are the cause of Menkes syndrome.

Mutations in the Notch 3 gene ( on the short arm of chromosome 19 ) cause an abnormal accumulation of Notch 3 at the cytoplasmic membrane of vascular smooth-muscle cells both in cerebral and extracerebral vessels, seen as granular osmiophilic deposits on electron microscopy.

Mutations in the fukutin gene, located at human chromosome 9q31, are the cause of FCMD.

Mutations in the FMO3 gene, which is found on the long arm of chromosome 1, cause trimethylaminuria.

Mutations in the FLCN gene, located on the short arm of chromosome 17 ( 17p11. 2 ), cause Birt – Hogg – Dubé syndrome.

In humans, GABA < sub > A </ sub >- ρ receptor subunits ρ1 and ρ2 are encoded by the and genes which are found on chromosome 6 whereas the gene for ρ3 is found on chromosome 3 Mutations in the ρ1 or ρ2 genes may be responsible for some cases of autosomal recessive retinitis pigmentosa.

Mutations in these proteins can result in altered functionality of sub-complex assembly, copper transport, or translational regulation.

Mutations in the autosomal RET proto-oncogene drives these malignancies

Mutations in these areas can lead to non-functional proteins that can polymerise and accumulate in the liver ( infantile hepatic cirrhosis ).

Mutations in these genes account for 70 to 80 percent of all cases of cerebral cavernous malformations.

Mutations in the DNA binding regions for either of these proteins results in ablation of transgene GLUT-4 expression.

Mutations in the surface proteins allow the virus to elude some host immunity, and the numbers and locations of these mutations that confer the greatest amount of immune escape has been an important topic of study for over a decade.

Mutations in the PCCA or PCCB genes disrupt the function of the enzyme, preventing these acids from being metabolized.

COUM's earliest public events were impromptu musical gigs performed at various pubs around Hull ; titles for these events included Thee Fabulous Mutations, Space Between the Violins, Dead Violins and Degradation and Clockwork Hot Spoiled Acid Test.

Mutations in any of these genes prevent the proper production or assembly of the type IV collagen network, which is an important structural component of basement membranes in the kidney, inner ear, and eye.

Mutations of all these proteins are associated with both atrial and ventricular septal defects ; In addition, NKX2-5 is associated with defects in the electrical conduction of the heart and TBX5 is related to the Holt-Oram syndrome which includes electrical conduction defects and abnormalities of the upper limb.

Mutations that affect the normal function of these genes can result in retinitis pigmentosa and vision loss.

Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex and Dermatopathia pigmentosa reticularis, both of which are autosomal dominant mutations.

Mutations in these genes typically lead to the synthesis of a truncated EXT protein which does not function normally.

Mutations in either of these genes disrupt the ability of this transporter protein to reabsorb these amino acids, allowing them to become concentrated in the urine.

Mutations in these cells are transmitted to offspring, while, on the other hand, those in somatic cells are not.

Mutations of the CFTR gene affect functioning of the chloride ion channels in these cell membranes, leading to cystic fibrosis and congenital absence of the vas deferens.

Mutations in these transporter proteins lead to a rare congenital disease called sitosterolaemia, which is characterised by:

Mutations in these genes alter the usual structure and function of potassium channels or prevent the assembly of normal channels.

Mutations in any of these genes alter the structure or function of channels, which changes the flow of ions between cells.

Mutations in any of these genes disrupt the production, processing, or assembly of type II or type XI collagen.

Mutations in any of these genes reduce or eliminate the function of the enzyme complex, preventing the normal breakdown of isoleucine, leucine, and valine.

Mutations cause reductions in these functional proteins but, it is unclear exactly how a shortage in these proteins leads to incomplete separation of the vertebrae in people with Klippel-Feil syndrome.