Mutations in either of two major susceptibility genes, breast cancer susceptibility gene 1 ( BRCA1 ) and breast cancer susceptibility gene 2 ( BRCA2 ), confer a lifetime risk of breast cancer of between 60 and 85 percent and a lifetime risk of ovarian cancer of between 15 and 40 percent.

Mutations tend to fall into two categories, having either a very bad effect or very little effect: few mutations fall somewhere in between.

Mutations in the MUTYH gene are inherited in an autosomal recessive pattern, which means two copies of the gene must be altered for a person to be affected by the disorder.

Mutations of the FOXP3 gene can prevent regulatory T cell development, causing the fatal autoimmune disease IPEX.

Mutations in this gene and / or its regulatory regions cause or hypohaptoglobinemia.

Mutations in several genes have been linked to several types of epilepsy.

Mutations in the genes for the hemoglobin protein in a species result in hemoglobin variants.

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 in genes can cause also affect skin colour through oculocutaneous albinism ( OCA ) – a lack of pigment in the eyes, skin and sometimes hair that occurs occasionally in a very small fraction of the population.

Mutations / knockout of other genes affecting the GH / IGF1 axis, such as Lit, Ghr and Irs1 have also shown extension in lifespan, but much more modest both in relative and absolute terms.

Mutations of the genes VHL, RET, NF1 ( Gene 17 Neurofibromatosis type 1 ), SDHB and SDHD are all known to cause familial pheochromocytoma / extra-adrenal paraganglioma.

Mutations in a number of different genes as well as RAS itself can have this effect.

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

Mutations in both copies of the PCCA or PCCB genes cause propionic acidemia.

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

* Mutations that cause CFC are found in the KRAS, BRAF, MEK1 and MEK2 genes.

Mutations in some homeotic genes can often be lethal and the cycle of life will end at embryogenesis.

Polycystic Disease is a genetic disease caused by Mutations in the PKD1, PKD2, and PKHD1 genes.

Mutations in the KCNH2, KCNJ2, and KCNQ1 genes cause short QT syndrome.

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

Mutations in the genes expressing this protein have been associated with the PC1 variant of pachyonychia congenita, an inherited disorder of the epithelial tissues in which keratin 6A is expressed, particularly leading to structural abnormalities of the nails, the epidermis of the palms and soles, and oral epithelia.

Mutations in the genes encoding this protein have been associated with White Sponge Nevus, characterized by oral, esophageal, and anal leukoplakia.

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 the genes that control the formation of down feathers have been recorded in a German White Leghorn flock.

Mutations of the wingless gene in the fruit fly were found in wingless flies, while tumors caused by MMTV were found to have copies of the virus integrated into the genome forcing overproduction of one of several Wnt genes.

Mutations in this region can affect rate of efficiency of gene transcription, which in turn can alter levels of mRNA and, thus, protein levels in general.

Mutations that reduce the production of functional myostatin lead to an overgrowth of muscle tissue.

Mutations in the dystrophin gene that lead to the production of less defective, but still only partially functional dystrophin protein, result in a display of a much milder dystrophic phenotype in affected patients, resulting in the disease known as Becker's muscular dystrophy ( BMD ).

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

Mutations in SLC25A13 typically prevent the production of any functional citrin, which inhibits the urea cycle and disrupts the production of proteins and nucleotides.

Mutations in APP associated with early-onset Alzheimer's have been noted to increase the relative production of Aβ < sub > 42 </ sub >, and thus one suggested avenue of Alzheimer's therapy involves modulating the activity of β and γ secretases to produce mainly Aβ < sub > 40 </ sub >.

Mutations in the GCDH gene prevent production of the enzyme or result in the production of a defective enzyme with very low residual activity, or an enzyme with relatively high residual activity but still phenotypic consequences.

Mutations in the CPT1A gene lead to the production of a defective version of an enzyme called carnitine palmitoyltransferase I.

Mutations in the SLC25A20 gene lead to the production of a defective version of an enzyme called carnitine-acylcarnitine translocase.

Mutations in the SH3BP2 gene lead to the production of an overly active version of this protein.

One deck represents random Alpha Mutations, which can be drawn to gain temporary powers, and the other contains various Omega Tech, powerful technological devices that could possibly backfire on those that use them.

Mutations of the Chardonnay grape include the rare pink-berried " Chardonnay Rose "; also " Chardonnay Blanc Musqué ", which produces an intensely aromatic wine.

Mutations of mitochondrial DNA can lead to a number of illnesses including exercise intolerance and Kearns-Sayre syndrome ( KSS ), which causes a person to lose full function of heart, eye, and muscle movements.

In 1998, Beck released the album Mutations on the Geffen label, which led to a series of lawsuits between Beck, Bong Load and Geffen which were settled in 1999.

In 1998, Beck released Mutations, the title of which is a tribute to Os Mutantes.

Mutations in TERT have been implicated in predisposing patients to aplastic anemia, a disorder in which the bone marrow fails to produce blood cells, in 2005.

Mutations to hemagglutinin affect the binding affinity to the cell surface receptor glycan of a target species, which determines the infectivity of the virus strain to that species.

Mutations affecting repressor are said to be recessive to wild type ( and that wild type is dominant ), and this is explained by the fact that repressor is a small protein which can diffuse in the cell.

Mutations in the WFS1 gene cause Wolfram syndrome, which is also known by the acronym DIDMOAD.

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

Mutations in TIM result in an inability to respond to zeitgebers, which is essential for resetting the biological clock.

Mutations in this region can affect the efficiency of gene transcription, which controls both the levels of mRNA and overall protein levels .< ref > name

Alfredo de Palchi's Addictive Aversions is a series of erotic poems divided into three sections, Moments, Movements and Mutations, but it is more than merely erotic love which concerns the poet.

Mutations in the KCNH2, KCNJ2, or KCNQ1 gene increase the activity of the channels, which changes the flow of potassium ions between cells.

In 2004 Erythromelalgia became the first human disorder in which it has been possible to associate an ion channel mutation with chronic neuropathic pain ; this became possible when a Yale neurologist spotted a Beijing geneticists team paper in the Journal of Medical Genetics titled " Mutations in SCN9A, Encoding a Sodium Channel Alpha Subunit, in Patients With Primary Erythromelalgia "; a connection was made that this sodium channel mutation was expressed primarily in peripheral pain sensing neurons.

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 in this gene have been associated with the variants of bullous congenital ichthyosiform erythroderma in which the palms and soles of the feet are affected.

Mutations in the ceruloplasmin gene (< i > CP </ i >), which are very rare, can lead to the genetic disease aceruloplasminemia, characterized by hyperferritinemia with iron overload.