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Topic: Missense mutations

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	Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer.
		Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer.
		Of 24 distinct missense mutations, 13 (54%) occurred in the substrate-binding A-site, 4 (17%) in the substrate-binding B-site, and 7 (29%) in the subunit-interacting region.
		Missense FH mutations predisposing to renal cancer had no unusual features, and identical mutations were found in families without renal cancer, suggesting a role for genetic or environmental factors in renal cancer development in MCUL.
	www.medscape.com /medline/abstract/16237213?src=emed_ckb_ref_0 (332 words)

	MCB General Genetics Spring 2000
		Some missense mutations are silent because they do not affect the function of the protein; others cause partial or complete inactivation of the proteins function.
		The affect of missense mutations depends on the nature of the amino acid substitution and the position of the change in the protein.
		Mutations that interfere with the function of hemoglobin, the oxygen carrying protein in red blood cells, are identified as genetic diseases that cause anemia.
	dwb.unl.edu /Teacher/NSF/C08/C08Links/socrates.berkeley.edu/~skarnes/mcb140/lecture17.htm (1432 words)

	Missense mutation Summary
		A missense mutation is a change in the nucleic acid base sequence (e.g., the polynucleotide sequence found in DNA) that results in a change in the order of amino acids in the protein chain resulting from the translation of that sequence.
		Missense mutation suppressors are similar to nonsense mutation suppressor in that are mutant genes that result in the production of transfer ribonucleic acids (tRNA) that have anticodons altered so that they have the ability to correct the errant instructions produced by missense mutations.
		Missense mutations or nonsynonymous mutations are types of point mutations where a nucleotide is changed which results in a different amino acid.
	www.bookrags.com /Missense_mutation (773 words)

	Mutation - Wikipedia, the free encyclopedia
		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 processes such as meiosis or hypermutation.
		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 (beneficial or advantageous) ones tend to accumulate.
		Causes of mutation Two classes of mutations are spontaneous mutations (molecular decay) and induced mutations caused by mutagens.
	en.wikipedia.org /wiki/Mutation (1777 words)

	Missense mutation - Wikipedia, the free encyclopedia
		Missense mutations or nonsynonymous mutations are types of point mutations where a nucleotide is changed which results in a different amino acid.
		Such mutations are responsible for diseases such as Epidermolysis bullosa and sickle-cell disease.
		For example, in sickle-cell disease, the 17th nucleotide of the gene for the beta chain of hemoglobin found on chromosome 11 is erroneously changed from the codon GAG (for glutamic acid) to GTG (which codes valine), so the sixth amino acid is incorrectly substituted.
	en.wikipedia.org /wiki/Missense_mutation (124 words)

	MCDB 2150 -- Lecture 25
		Mutation: A mutation is any change in genetic information relative to a reference "wild-type" genome, including changes that affect expression of genes without altering their coding sequences and changes that do not cause any detectable phenotypic difference (silent mutations).
		Somatic and germ-line mutations: The mutations that we normally deal with in genetics are those that occur in the germ-line and are thus passed on to subsequent generations.
		Sickle-cell anemia as an example of a missense mutation: Sickle-cell anemia was identified in 1957 as being caused by a missense mutation resulting in a single amino acid substitution in the beta-globulin subunit of the hemoglobin tetramer (2 alpha + 2 beta subunits).
	www.colorado.edu /MCDB/MCDB2150Fall/notes/L25.html (3937 words)

	Missense Mutations in Fumarate Hydratase in Multiple Cutaneous and Uterine Leiomyomatosis and Renal Cell Cancer -- Alam ...
		Missense Mutations in Fumarate Hydratase in Multiple Cutaneous and Uterine Leiomyomatosis and Renal Cell Cancer -- Alam et al.
		Mutations reported in FH deficiency are fl, mutations reported in MCUL are blue, mutations reported in both MCUL and FHD are red.
		Mutated residues of unknown function are shown in cyan.
	jmd.amjpathol.org /cgi/content/full/7/4/437 (2904 words)

	mutation.html
		A type of substution called a missense mutation and a type of frameshift mutation involving a deletion of the fouth nucleotide in the original DNA are shown.
		Neutral mutations are a type of missense mutation in which the new amino acid is chmically similar to the one it is replacing.
		A nonsense mutation is a mutation that replaces a codon for an amino acid with one of the three stop codons.
	staff.jccc.net /pdecell/evolution/mutations/mutation.html (2525 words)

	Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes -- Macfarlane et al. 104 (9): 33 ...
		in mice heterozygous for a null mutation (12) or with ß
		Mutations in the hepatocyte nuclear factor 1 alpha gene are a common cause of maturity-onset diabetes of the young in the United Kingdom.
		Mutations in hepatocyte nuclear factor 1 beta are not a common cause of maturity-onset diabetes of the young in the U.K. Diabetes.
	www.jci.org /cgi/content/full/104/9/R33 (4066 words)

	Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia -- Notarangelo et al. 99 (6): 2268 -- ...
		Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia -- Notarangelo et al.
		Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia
		X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.
	www.bloodjournal.org /cgi/content/full/99/6/2268 (1586 words)

	Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a ...
		Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia.
		Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus.
		Novel mutations in spastin gene and absence of correlation with age at onset of symptoms.
	jmg.bmjjournals.com /cgi/content/full/40/9/e106 (1383 words)

	NEJM -- Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy
		Seven mutations in the beta cardiac myosin heavy-chain gene were identified in 12 of the 25 families.
		All were missense mutations (i.e., causing the substitution of a single amino acid) clustered in the head and head-rod junction regions of the molecule.
		Different missense mutations in the beta cardiac myosin heavy-chain gene can be identified in approximately 50 percent of families with hypertrophic cardiomyopathy.
	content.nejm.org /cgi/content/short/326/17/1108 (2762 words)

	Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic ...
		Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer.
		Missense and nonsense mutations in codons 659 of MLH1 cause aberrant splicing of messenger RNA in HNPCC kindreds.
		CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations.
	gut.bmjjournals.com /cgi/content/full/50/3/405 (4215 words)

	Missense mutations and ALDP stability (Site not responding. Last check: 2007-10-26)
		Missense mutations may affect the stability of the ALD protein.
		The effect of missense mutations on the stability of ALDP has been investigated for 52 independent missense mutations.
		However, at two of these six positions also missense mutations have been reported that destabilize ALDP, these two amino acids are therefor not marked in orange but in red.
	www.x-ald.nl /aldp.htm (209 words)

	Human sodium channel gating defects caused by missense mutations in S6 segments associated with myotonia: S804F and ...
		Either mutation causes detectable alterations in channel gating and, in model simulations, the magnitude of the defects is sufficient to produce runs of myotonic discharges.
		The V1293I mutation is biochemically a conservative substitution that increases the length of an aliphatic side chain by a methyl group.
		Missense mutations at the cytoplasmic ends of IIS5 (T704M) and IVS6 (M1592V) disrupt slow inactivation, whereas a mutation in IS6 (N434A in rat SkM1) enhances slow inactivation (Wang and Wang 1997).
	jp.physoc.org /cgi/content/full/510/3/685 (5772 words)

	Reproductive Biology and Endocrinology \| Full text \| Novel missense mutations of the Deleted-in-AZoospermia-Like ...
		Here, we identified four putative missense mutations in the DAZL gene, listed in Table 1 and depicted in Figure 1, that were found only in one or two individuals in all three populations that we studied.
		Three mutations mapped to exon 2 and one mapped to exon 5 of the DAZL gene; all were juxtaposed to, or within, the RNA-binding domain.
		None of these mutations were found in the 108 control women that had a normal menopause or were still menstruating at age 46, suggesting they may be associated with impaired germ cell development and fertility.
	www.rbej.com /content/4/1/40 (3457 words)

	BioMed Central \| Full text \| Predicting the effect of missense mutations on protein function: analysis with Bayesian ...
		The evolutionary properties of the mutated residue may also be important determinants of its effect on protein function [7-9], since conserved amino acids tend to be functionally important or critical in maintaining structural integrity.
		Classification of 'effect' and 'no effect' mutations was based on that of [17] in which only those mutations resulting in a significant loss of function were considered 'effect' mutations.
		A total of fourteen variables were used to predict whether or not a missense mutation affects protein function (Table 1; Note also the abbreviations introduced – taken from the dataset of [17]).
	www.biomedcentral.com /1471-2105/7/405 (6532 words)

	PAH : Phenylalanine Hydroxylase Locus Knowledgebase web site
		Mutations in the phenylalanine hydroxylase (PAH) gene, the majority of which result in deficient enzyme activity and cause hyperphenylalaninemia, occur in all 13 exons of the gene and flanking sequence.
		The majority of changes are missense mutations, although splice, nonsense and silent mutations, as well as single base-pair frameshifts, and larger deletions and insertions have been found.
		Mutation data were collated from both published articles and personal communications of 82 investigators from the PAH Mutation Analysis Consortium in 32 countries.
	www.pahdb.mcgill.ca (597 words)

	Rett Syndrome Research Foundation :: Parent Resources:: Genetics of Rett Syndrome
		Mutations range in size from only one nucleotide base to a large segment of DNA comprising many genes.
		This type of mutation is a change in one DNA base pair that results in the substitution of one amino acid for another.
		The vast majority of mutations are sporadic, not familial, and originate from a mutated sperm.
	www.rsrf.org /parent_resources/9.4.html (2186 words)

	Missense mutation - Information, Resources, Links and Reference
		It has been suggested that this article or section be merged into mutation.
		In genetics, missense mutations or nonsynonymous mutations are types of point mutations where a single nucleotide is changed to cause substitution of a different amino acid.
		An amino acid may be replaced by an amino acid of very similar chemical properties, in which case, the protein may still function normally; this is termed a neutral or "quiet" mutation.
	www.cyberpedia.net /info.php?title=Missense_mutation (178 words)

	Mutations
		Recessive mutations (most of them are) will not be seen except on the rare occasions that both parents contribute a mutation at the same locus to their child.
		The frequency with which a given mutation is seen in a population (e.g., the mutation that causes cystic fibrosis) provides only a rough approximation of mutation rate — the rate at which fresh mutations occur — because of historical factors at work such as
		The significance of mutations is profoundly influenced by the distinction between germline and soma.
	users.rcn.com /jkimball.ma.ultranet/BiologyPages/M/Mutations.html (2853 words)

	Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain -- Kudo et al. ...
		Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain -- Kudo et al.
		retardation caused by mutations in the MECP2 gene.
		The effects of mutations were evaluated by analysis of the affinity
	jmg.bmjjournals.com /cgi/content/abstract/40/7/487 (282 words)

	Distinct FTDP-17 Missense Mutations in Tau Produce Tau Aggregates and Other Pathological Phenotypes in Transfected CHO ...
		FTDP-17 missense mutations decrease the binding of tau to MT. Cell lysates from CHO cells stably expressing Wt or mutant tau were separated into cytoskeletal (P) and soluble fractions (S) after MT assembly.
		The image in D is a higher magnification of the lower left portion of the inclusion seen in C. Arrowheads in C correspond to the same region that is marked by arrowheads at higher magnification in D. Arrows in B and D highlight fibril-like structures within the aggregates.
		Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17.
	www.molbiolcell.org /cgi/content/full/11/12/4093 (7375 words)

	Detection of Protein Folding Defects Caused by BRCA1-BRCT Truncation and Missense Mutations -- Williams et al. 278 ...
		C, a nonsense mutation 1853-ter results in the removal of the 11 C-terminal residues of the protein and is linked to disease.
		A, the indicated missense mutations were digested with increasing concentration amounts of trypsin.
		In the case of a heterozygote carrier for missense mutation, highly destabilizing mutants would result in a 50% reduction in protein amounts of the BRCT.
	www.jbc.org /cgi/content/full/278/52/53007 (5799 words)

	Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast ...
		Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer -- Scott et al.
		Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer
		Missense mutation and defective function of ATM in a childhood acute leukemia patient with MLL gene rearrangement
	www.pnas.org /cgi/content/abstract/99/2/925 (1091 words)

	NEJM -- Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and ... (Site not responding. Last check: 2007-10-26)
		Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System Disease
		A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia.
		Epidemiology of desmin and cardiac actin gene mutations in a European population of dilated cardiomyopathy.
	content.nejm.org /cgi/content/abstract/341/23/1715 (3190 words)

	Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing ...
		Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes.
		To date we have identified 65 missense mutations in the GALNS gene from MPS IVA patients, but the correlation between genotype and phenotype has remained unclear.
		Thus, a tertiary structural model of human GALNS was constructed from the X-ray crystal structure of N -acetylgalacto-samine-4-sulfatase and arylsulfatase A, using homology modeling, and 32 missense mutations were investigated.
	www.medscape.com /medline/abstract/10814710?src=emed_ckb_ref_0 (376 words)

	Characterization of Two Novel Homozygous Missense Mutations Involving Codon 6 and 259 of Type II 3{beta}-Hydroxysteroid ...
		The region of the codon 6 missense mutation is indicted by an arrow on a schematic of the type II 3ßHSD gene map.
		The region of the codon 259 missense mutation is indicated by an arrow on a schematic of the type II 3ßHSD gene map.
		1995 A novel missense mutation in the type II 3ß-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3ß-hydroxysteroid dehydrogenase deficiency.
	jcem.endojournals.org /cgi/content/full/85/4/1678 (5182 words)

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