Mutations in tafazzin that cause Barth syndrome span many different categories: missense, nonsense, deletion, frameshift, splicing ( see Human Tafazzin ( TAZ ) Gene Mutation & Variation Database ).

Mutations in the gene for the prion protein can cause a misfolding of the dominantly alpha helical regions into beta pleated sheets.

Mutations of the corresponding gene in mice ( FOXP2 is fairly well conserved ; modern humans share the same allele as Neanderthals ) cause reductions in size and vocalization rate.

Mutations in the gene HR can lead to complete hair loss, though this is not typical in humans.

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

Mutations of this very polymorphic gene, such as Arg151Sys ( rs1805007 ), Arg160Trp ( rs1805008 ), Asp294Sys ( rs1805009 ), Val60Leu ( rs1805005 ) and Val92Met ( rs2228479 ) have been shown to cause red hair and pale skin that does not tan in a small percentage of the human population.

Mutations in the androgen receptor gene can cause problems with any of the steps involved in androgenization, from the synthesis of the androgen receptor protein itself, through the transcriptional ability of the dimerized, androgen-AR complex.

Mutations in the gene for aspartoacylase prevent the breakdown of N-acetylaspartate, and reduce brain acetate availability during brain development.

* JBTS3: Mutations in a gene of unknown function called AHI1 is associated with a subset of Joubert syndrome cases.

* Mutations in the OFD1 gene can also cause several other disorders with features that overlap with those of oral-facial-digital syndrome.

Mutations of the HFE gene account for 90 % of the cases of non-transfusional iron overload.

Mutations in the microsomal triglyceride transfer protein ( MTTP ) gene has been associated with this condition.

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.

Mutations in the gene coding for the NADPH oxidase cause an immunodeficiency syndrome called chronic granulomatous disease, characterized by extreme susceptibility to infection, especially catalase positive organisms.

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

Mutations are considered the driving force of evolution, where less favorable ( or deleterious ) mutations are removed from the gene pool by natural selection, while more favorable ( or beneficial ) ones tend to accumulate.

Mutations in this gene have been associated with early onset obesity, adrenal insufficiency, and red hair pigmentation.

Mutations leading to the loss of function of a gene are much more common than mutations that produce a new, fully functional gene.

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

Mutations in the human sonic hedgehog gene, SHH, cause holoprosencephaly type 3 ( HPE3 ) as a result of the loss of the ventral midline.

Mutations in different parts of the gene may lead to deafness or Stickler syndrome type III ( eye problems: myopia, retinal detachment and skeletal abnormalities ).

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

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 may also lead to fewer copies of the CFTR protein being produced.

Mutations in BRCA1 and BRCA2, important risk factors for ovarian cancer and breast cancer in women, have also been implicated in prostate cancer.

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 in the gene may cause impaired transport of lipids in the skin layer and may also lead to small version of the proteins responsible for skin development.

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

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 have also been found on the cytoplasmic loops between the S4 and S5 helices of domains II, III and IV, which are the binding sites of the inactivation gate.

Mutations in MCT8 and SECISBP2 have also been associated with this condition.

Mutations in this gene have also been associated with a reduction in Plasmodium falciparum rosetting, conferring protection against severe malaria.

Mutations that are not germline are somatic mutations, which are also called acquired mutations.

Mutations that cause the altered codon to produce an amino acid with similar functionality ( i. e. a mutation producing leucine instead of isoleucine ) are often also classified as silent ; if the properties of the amino acid are conserved, this mutation does not usually significantly affect protein function.

Mutations causing RP have also been found in the rhodopsin gene and in the alpha-and beta-subunits of rod phosphodiesterase, which encode rod phototransduction cascades.

Mutations in the same gene also cause enlarged vestibular aqueduct syndrome ( EVA or EVAS ), another congenital cause of deafness ; specific mutations are more likely to cause EVAS, while others are more linked with Pendred syndrome.

Mutations inherited through the chromosomes can be autosomal dominant or recessive and can also be sex-linked dominant or recessive.

Mutations in the gene that codes for C1-inhibitor, SERPING1, may also play a role in the development of age related macular degeneration.

Left-handed Waronker first became known in the late 1990s for his work with Beck ( on Odelay, Mutations, Midnite Vultures, Sea Change, Guero and Modern Guilt ), and was also a session drummer on The Smashing Pumpkins ' 1998 album Adore.

Mutations on the other hand can also be part of a survival strategy.

Indels can also be contrasted with Tandem Base Mutations ( TBM ), which may result from fundamentally different mechanisms.

Mutations in the GDF6 and GDF3 genes have also been identified to cause the disease.

* Mutations or aberrant regulation of catenins may also associate with other factors that promote metastasis and tumorigenesis

Mutations have been found in the CHS1 ( also called LYST ) gene.