AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesDisciplines and OccupationsAnthropology, Education, Sociology and Social PhenomenaInformation ScienceNamed GroupsHealth Care
Mutation, MissensePoint MutationMutationFrameshift MutationPedigreeGerm-Line MutationDNA Mutational AnalysisExonsMolecular Sequence DataBase SequenceHeterozygoteAmino Acid SubstitutionPolymorphism, Single-Stranded ConformationalAmino Acid SequenceAllelesMutation RateCodon, NonsensePolymerase Chain ReactionHomozygotePhenotypeGenotypeGenes, RecessiveSequence Analysis, DNAMutagenesis, Site-DirectedGenes, DominantMutagenesisProtein Structure, TertiaryGenetic TestingSequence DeletionDNA PrimersSyndromeModels, MolecularSequence Homology, Amino AcidSuppression, GeneticCodonChromosome MappingConsanguinityEscherichia coliDNA-Binding ProteinsGenetic LinkageCell LineSequence AlignmentMutant ProteinsGenetic Predisposition to DiseaseGenes, p53Binding SitesGene DeletionGenetic Complementation TestFamily HealthTranscription FactorsFounder EffectMembrane ProteinsDNAProtein BindingCloning, MolecularPolymorphism, GeneticTransfectionGenetic VariationSaccharomyces cerevisiaeHeterozygote DetectionIntronsNuclear ProteinsGene FrequencyCarrier ProteinsModels, GeneticGenetic Diseases, X-LinkedAbnormalities, MultiplePlasmidsGenes, BRCA1Bacterial ProteinsCOS CellsAge of OnsetEye ProteinsProtein ConformationRetinitis PigmentosaDNA, NeoplasmRNA, MessengerTranscription, GeneticPolymorphism, Single NucleotideGenes, LethalMicrosatellite RepeatsEye AbnormalitiesMutagenesis, InsertionalConserved SequenceDNA, MitochondrialRNA SplicingRecombinant ProteinsRNA Splice SitesProteinsStructure-Activity RelationshipEthylnitrosoureaProto-Oncogene Proteins B-rafPromoter Regions, GeneticPenetranceGenes, BacterialJewsGenesGenetic Association StudiesSignal TransductionGenes, Suppressor
CharacterizationVariantHeterozygousPathogenicVariantsHomozygousExonPhenotypeGene mutationsDifferent mutationsSystematicGeneticSubstitutionRecessiveSomaticEnzymeClinicalPMIDPatientsNephropathyCongenitalStabilityAutosomalFunctionalGenomeIntellectual disabilityMutationalPedigreeCarbamoylGenes involvedAmino acidPopulationsDetectionSuggestsNovoSyndromeOvarianWhole-exomeMutagenesisDevelopmentalSevereFindingsDeficiencySubsequentIdentifierBovineGenomicFamilialAbnormalGain-of-functRare
Characterization3
  • Identification and characterization of SET domain family genes in bread wheat (Triticum aestivum L. (nature.com)
  • Kawai Y, Moriyama A, Asai K, Coleman-Campbell CM, Sumi S, Morishita H, Suchi M. Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene. (medlineplus.gov)
  • Molecular dynamic simulation and principal component analysis provide compelling evidence that this PROM1 mutation contributes to disease causativeness or susceptibility variants in patients with STGD4-like MD. Thus, this finding defines new approaches in genetic characterization, accurate diagnosis, and prevention of STGD4-like MD. (oncotarget.com)
Variant5
  • Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. (mpg.de)
  • Missense variant in a gene that has a low rate of benign missense variation and where missense variants are a common mechanism of disease. (alzforum.org)
  • Next-generation sequencing identified two de novo truncating variants in the Src-family tyrosine kinase, LYN , p.Y508*, p.Q507* and a de novo missense variant, p.Y508F, that result in constitutive activation of Lyn kinase. (nature.com)
  • Genomic mutation identifier (COSV) to indicate the definitive position of the variant on the genome. (sanger.ac.uk)
  • An additional PTEN mutation, which was classified as variant of unknown significance, was identified in a patient with a pathogenic PTEN mutation, making him harbour bi-allelic germline PTEN mutations. (biomedcentral.com)
Heterozygous3
  • Furthermore, all confirmed BSD carriers were heterozygous, while all affected calves were homozygous for the glutamine allele consistent with recessive transmission of the underlying mutation and complete penetrance in the homozygous state. (au.dk)
  • In a pedigree with Mendelian dominant FALS, one patient was found to be heterozygous for the p.D90A mutation. (bmj.com)
  • Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. (mpg.de)
Pathogenic3
  • We identified ten pathogenic/likely pathogenic mutations in PTEN ( n = 4), PIK3CA ( n = 3), MTOR ( n = 1) and PPP2R5D ( n = 2) in ten patients. (biomedcentral.com)
  • Identification of pathogenic missense mutations using protein stability predictors. (bibliome.ai)
  • Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. (cdc.gov)
Variants2
  • Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing. (stanford.edu)
  • In this study the phenotype of three FB missense variants, detected in patients with aHUS (D371G and E601K) and MPGN (I242L), was investigated. (lu.se)
Homozygous2
  • A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation. (mpg.de)
  • A homozygous p.Glu120Lys mutation in NANOS3 was identified in two sisters with primary amenorrhea. (hindawi.com)
Exon5
  • First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature. (mpg.de)
  • This mutation affects splicing such that exon 8 is more frequently excluded from transcripts. (alzforum.org)
  • nonsense mutation in the exon 1 Date 03-Aug-2000 (Rel. (lu.se)
  • missense mutation in the exon 5 Date 03-Aug-2000 (Rel. (lu.se)
  • Accession A0068 Systematic name Allele 1 and 2: g.1135C>T, c.7C>T, r.7c>u, p.Gln3X Original code F1 Description Allele 1 and 2: A point mutation in the exon 1 leading to a Description premature stop codon Date 16-Mar-2007 (Rel. (lu.se)
Phenotype3
  • The aim of the present study was to search for mutations in the ventricular regulatory myosin light chain gene (MYL2), located on chromosome 12q23q24.3, in a panel of 42 probands presenting a classical phenotype of familial hypertrophic cardiomyopathy. (nih.gov)
  • Linkage analysis of the co-segregation of the mutation and the disease phenotype revealed a positive logarithm of odds ratio (LOD) score (1.8, θ = 0). (alzforum.org)
  • The results reveal a mechanism by which quantitative competition between channel subunits for tetramer assembly can impact the phenotype of the mutation carrier. (elifesciences.org)
Gene mutations2
  • HAL gene mutations lead to the production of a histidase enzyme that cannot break down histidine, which results in elevated levels of histidine in the blood and urine. (medlineplus.gov)
  • 3. Advances in genetics have identified new gene mutations in which have clarified the causes of several conditions previously thought to be "idiopathic. (frontiersin.org)
Different mutations2
  • Meanwhile over 20 different mutations are known in the dihydropyrimidine dehydrogenase gene (DPYD) which could be associated with a loss of enzyme function. (thieme-connect.de)
  • Interestingly, three different mutations in human SPAST gene at the equivalent position are known to cause HSP. (au.dk)
Systematic1
  • In addition, annotations are classified as classical genetics or high-throughput (e.g., large scale survey, systematic mutation set). (yeastgenome.org)
Genetic4
  • By analysis of genetic recombinations, one of these mutations identified in a large family allowed us to refine the localization of the MYL2 gene on the genetic map, in an interval of 6 cM containing six informative microsatellite markers. (nih.gov)
  • In conclusion, we show that mutations in the MYL2 gene may be involved in familial and classical forms of hypertrophic cardiomyopathy, and we provide new tools for the genetic analysis of patients with familial hypertrophic cardiomyopathy. (nih.gov)
  • According to the American Academy of Pediatrics guidelines for ASD published in 2000, genetic testing is a standard diagnostic test for children with ASD and dysmorphic features or intellectual disability (ID). (biomedcentral.com)
  • 2007). Here, we report the unusual genetic behavior of a quantitative gain-of-function CNGC mutation ( brush ) in Lotus japonicus resulting in a leaky tetrameric channel. (elifesciences.org)
Substitution1
  • In addition, we studied all DPP4 mutations and found the functional substitution R336T weakens both DPP4 protein stability and S-DPP4 binding affinity. (frontiersin.org)
Recessive2
  • Mutations in parkin (PARK2) and Pink1 (PARK6) are responsible for autosomal recessive forms of early onset Parkinson's disease (PD). (sdbonline.org)
  • The recessive mongenic brush mutation impaired root development and infection by nitrogen-fixing rhizobia. (elifesciences.org)
Somatic3
  • Germline mutations were validated by Sanger sequencing, whereas somatic mutations were validated by droplet digital PCR. (biomedcentral.com)
  • Two patients harboured somatic PIK3CA mutations, and the level of somatic mosaicism in blood DNA was low. (biomedcentral.com)
  • Clinically, patients with germline mutations are difficult to distinguish from patients with somatic mutations, and therefore, sequencing of buccal or saliva DNA is important to identify somatic mosaicism. (biomedcentral.com)
Enzyme3
  • Histidinemia is caused by mutations in the HAL gene, which provides instructions for making an enzyme called histidase. (medlineplus.gov)
  • Alpha-Mannosidosis is caused by an enzyme defect due to mutations in the gene for lysosomal alpha-Mannosidase (LAMAN) affecting the lysosomal and cellular glycoprotein catabolism with severe consequences for the organism. (europa.eu)
  • Understanding carbomyl phosphate synthetase deficiency: impact of clinical mutations on enzyme functionality. (medscape.com)
Clinical2
  • Although SOD1 mutations have been identified in many western populations at comparable frequencies, screening in clinical practice suggests that these mutations are rare in The Netherlands. (bmj.com)
  • One of the current limitations of human and clinical genetics is the inability to detect, among hundreds of thousands of mutations, those that cause diseases. (daijiworld.com)
PMID1
  • PMID:18786442 mutations and the risk of esophageal squamous cell carcinoma. (who.int)
Patients14
  • Our aim is to develop a sensitive and efficient screening of tumor patients to identify patients with mutations in the DPYD gene which might be related to 5-FU-toxicity. (thieme-connect.de)
  • Developing adapted preventive strategies requires identification of the environment that enables M. ulcerans development and the dynamics of the mycobacterium in the environment and in patients. (cdc.gov)
  • Objective To estimate the frequency of SOD1 mutations in a large referral cohort of familial amyotrophic lateral sclerosis (FALS) and sporadic amyotrophic lateral sclerosis (SALS) patients from The Netherlands and to compare this frequency with that of other developed countries. (bmj.com)
  • Methods A total of 451 sporadic and 55 FALS patients were screened for SOD1 mutations. (bmj.com)
  • 2 Subsequent studies have identified over 140 different SOD1 mutations in ALS patients. (bmj.com)
  • Mutations in SOD1 have been reported in approximately 12-23% of the patients diagnosed as having FALS and in 1-4% of patients diagnosed as having SALS. (bmj.com)
  • We report the frequency of SOD1 mutations in a large Dutch referral population of sporadic and familial ALS patients, and a comparison is made with other countries by reviewing studies on SOD1 mutation frequencies in populations from Europe, USA and Japan. (bmj.com)
  • Two patients with truncating mutations had liver fibrosis that in one patient resolved on treatment with the Src kinase inhibitor dasatinib. (nature.com)
  • The aim of this study is to characterise the mutation spectrum of this group of patients. (biomedcentral.com)
  • Patients who tested positive for mutations in the PI3K-AKT-mTOR pathway had a lower developmental quotient than the rest of the cohort (DQ = 62.8 vs. 76.1, p = 0.021). (biomedcentral.com)
  • Among the ten patients with identified mutations, brain magnetic resonance imaging was performed in nine, all of whom showed megalencephaly. (biomedcentral.com)
  • We identified mutations in the PI3K-AKT-mTOR signalling pathway in nearly half of our patients with macrocephaly and developmental delay/autism spectrum disorder. (biomedcentral.com)
  • Results Patients show ID, SLI, neuromotor delay (NMD) and recurrent facial features including a high broad forehead, bent downslanting palpebral fissures, ptosis and/or blepharophimosis and a bulbous nasal tip. (bmj.com)
  • Chromosomal microarray (CMA) is the recommended first-tier diagnostic test for patients with developmental delay (DD), intellectual disability (ID), or autism spectrum disorders (ASDs) of unknown etiology. (arupconsult.com)
Nephropathy1
  • Missense mutations in UMOD cause tubulointerstitial nephropathy with hyperuricemia , previously named MCKD type 2 or juvenile hyperuricemic nephropathy type 1. (medscape.com)
Congenital1
  • CMA offers the highest diagnostic yield (approximately 15-20%) in individuals with unexplained DD/ID, ASD, and multiple congenital anomalies (MCAs) and is preferred to chromosome analysis (karyotyping). (arupconsult.com)
Stability3
  • The goal of the present investigation is to examine the effects of missense mutations in the MERS-CoV S protein on protein stability and binding affinity with DPP4 to provide insight that is useful in developing vaccines to prevent coronavirus infection. (frontiersin.org)
  • We investigated the effects of MERS-CoV S protein viral mutations on protein stability and binding affinity. (frontiersin.org)
  • Structurally, this mutation most likely impairs PROM1 protein stability, flexibility, and amino acid interaction network after changing the amino acid residue Leucine into Proline in the basic helix-loop-helix leucine zipper domain. (oncotarget.com)
Autosomal1
  • PDE3A mutations cause autosomal dominant hypertension with brachydactyly. (mpg.de)
Functional2
  • A recent molecular and functional examination of the mutational effects showed that, although some mutations affect both substrate affinity and efficiency of the reaction, others affect one more than the other. (medscape.com)
  • Next, we developed a synergism-based functional screening method for the identification of other oncogene(s) that act with Bcl2 and Myc . (haematologica.org)
Genome2
  • By comparing the genomes of 809 non-human primate individuals from 233 species to the human genome, the research has identified 4.3 million common missense mutations. (daijiworld.com)
  • The identification of retrotransposable elements in forest trees represents an important step toward the understanding of mechanisms of genome evolution. (sisef.it)
Intellectual disability1
  • Background Mutations in forkhead box protein P1 ( FOXP1 ) cause intellectual disability (ID) and specific language impairment (SLI), with or without autistic features (MIM: 613670). (bmj.com)
Mutational1
  • Mutational analysis revealed point-mutations in the SOD1 gene to cosegregate with the disease in these pedigrees. (bmj.com)
Pedigree1
Carbamoyl1
  • Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1. (medscape.com)
Genes involved2
  • Rare mutations have been described in genes involved in ovarian development and/or function such as FSHR (MIM 136435), LHCGR (MIM 152790), BMP15 (MIM 300247), POF1B (MIM 300603), NOBOX (MIM 610934), INHA (MIM 147380), GDF9 (MIM 601918), NR5A1 (MIM 184757), and FIGLA (MIM 608697) and in meiotic genes [ 9 - 23 ]. (hindawi.com)
  • Although the identification of other cooperative genes involved is important, our present understanding of such genes remains scant. (haematologica.org)
Amino acid1
  • It describes the source of the mutation i.e gene name/sample name/tissue name with unique ID, and also shows the mutation syntax at the amino acid and nucleotide sequence level. (sanger.ac.uk)
Populations1
  • Nowadays, it occurs in Santiago Island alone and though prophylaxis is not recommended by the World Health Organization, studies have highlight the prospect of malaria becoming a serious public health problem as a result of the presence of antimalarial drug resistance associated with mutations in the parasite populations and underscore the need for tighter surveillance. (unl.pt)
Detection2
  • Detection of mutations in this gene has confirmed the fundamental role of aromatase for the fetal-placental unit and for sexual differentiation of the female fetus. (health.am)
  • The diagnostic yield varies by patient population and the presence of comorbidities, but is estimated to be approximately 15-20% (approximately 10% higher than the detection rate by karyotype analysis in the DD/ID/ASD population). (arupconsult.com)
Suggests1
  • The identification of an inactivating missense mutation in NANOS3 suggests a mechanism for POI involving increased primordial germ cells (PGCs) apoptosis during embryonic cell migration and highlights the importance of NANOS proteins in human ovarian biology. (hindawi.com)
Novo1
  • The discovery of de novo gain-of-function (GOF) mutations in IL-1 activating inflammasomes (NLRP3, NLRC4, pyrin, and NLRP1) and Type-1 IFN activating viral sensors (STING, RIG-I, and IFIH1/MDA5) linked key innate immune pathways to sterile inflammation. (nature.com)
Syndrome2
  • Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. (nih.gov)
  • however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. (nih.gov)
Ovarian2
  • 6 Gross E, Kiechle M, Arnold N. Mutation analysis of p53 in ovarian tumors by DHPLC. (thieme-connect.de)
  • Nevertheless, mutations in these genes account for a minority of cases of ovarian dysfunction, indicating that additional factors remain to be identified. (hindawi.com)
Whole-exome1
  • Although not typically included in guidelines or billing algorithms, whole exome sequencing (WES) is gaining traction as a test for DD/ID/ASD. (arupconsult.com)
Mutagenesis1
  • We utilized a saturation mutagenesis approach to simulate all possible mutations in the MERS-CoV full-length S, S Receptor Binding Domain (RBD) and DPP4. (frontiersin.org)
Developmental1
  • Identification of PITX3 mutations in individuals with various ocular developmental defects. (cdc.gov)
Severe1
  • Those with severe DD diagnosed before age 6 are most likely to develop ID. (arupconsult.com)
Findings1
  • These findings provide further information on how mutations in coronavirus S proteins effect protein function. (frontiersin.org)
Deficiency1
  • Pyruvate kinase deficiency in sub-Saharan Africa: identification of a highly frequent missense mutation (G829A;Glu277Lys) and association with malaria. (unl.pt)
Subsequent1
  • The frameshift mutation results in the formation of a truncated protein which cannot fold properly, promoting aggregation, and subsequent deposition in tubular cells. (medscape.com)
Identifier1
Bovine1
  • Identification of papain-like cysteine proteases from the bovine piroplasm Babesia bigemina and evolutionary relationship of piroplasms C1 family of cysteine proteases. (unl.pt)
Genomic3
  • All the COSM ids at the same genomic location have been collapsed into one representative COSM id. (sanger.ac.uk)
  • Therefore, several of these internal ids could be associated with a single genomic COSV id where the mutation has been mapped to all overlapping genes and transcripts. (sanger.ac.uk)
  • Similarly, since every COSM id is mapped to one COSV id (where genomic coordinates are known), each COSM id can also be associated with several alternative (internal) identifiers. (sanger.ac.uk)
Familial1
  • Conclusions The authors demonstrate that SOD1 mutations are rare in The Netherlands in familial and SALS. (bmj.com)
Abnormal2
  • Single-strand conformation polymorphism analysis was used to search for mutations in the coding segments of the MYL2 gene, and the abnormal products were sequenced. (nih.gov)
  • ASDs are typically detected by 3 years of age based on parents' and observers' identification of abnormal interactions and behaviors. (arupconsult.com)
Gain-of-funct2
  • The FD inhibitor danicopan abrogated C3 convertase-associated FB cleavage to the Bb fragment in patient serum, and of the FB constructs, D371G, E601K, I242L, the gain-of-function mutation D279G, and the wild-type construct, in FB-depleted serum. (lu.se)
  • These results suggest that FD inhibition can effectively block complement overactivation induced by FB gain-of-function mutations. (lu.se)
Rare1
  • According to researchers, only rare missense mutations can raise the risk of disease. (daijiworld.com)