Mutation missense. Medical search. Frequent questions

We previously identified four novel EGFR somatic mutations in the EGFR tyrosine kinase domain of prostate cancer patients: G735S, G796S, E804G and R841K. (mssm.edu)
In this study, we investigated the oncogenic potential of these somatic mutations by establishing stable clonal NIH3T3 cells expressing these four mutations and WT EGFR to determine their ability to increase cell proliferation and invasion. (mssm.edu)
Here, we identified in the version 64 of the Catalogue of Somatic Mutations in Cancer (COSMIC) 13 missense mutations of hace1 located outside the HECT domain, and found that all lead to defective control of cell proliferation. (c3m-nice.fr)
Clonal hematopoiesis (CH) is defined as the acquisition of somatic mutations in blood cells and is associated with smoking and exposure to genotoxic stimuli. (cdc.gov)
First responders to the World Trade Center disaster, who were exposed to particulate matter containing potential carcinogens, have a high burden of somatic mutations in blood cells, raising their risk for cancer and other diseases and highlighting the need for enhanced health screening of these individuals. (cdc.gov)

C)). Molecular genetic analysis of her parents demonstrated that both parents did not harbour the child's mutation, indicating that her mutation had arisen de novo. (hkmj.org)
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females. (uib.no)
ERCC1 were absent in other low-grade in lowgrade diffuSe glioMaS schwannomas also carried the MSH4 diffuse gliomas and in primary (de novo) germline mutation and, in addition, a glioblastomas (Ohta et al. (who.int)

useful for glioma diagnosis (Baumgarten additional germline mutations. (who.int)

The functional consequences of these missense mutations have been inferred by evolutionary conservation, but none have been tested directly. (nih.gov)
However, there is little functional evidence linking missense mutations to human diseases. (mdpi.com)
Combination of Whole Genome Sequencing, Linkage and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy with Features of Left Ventricular Non-Compaction. (ox.ac.uk)
Our study of the functional interplay between HACE1 and Rac1 in cancer thus sheds a new light on the molecular mechanism of Rac1 ubiquitylation by HACE1 and the impact of its cancer-associated mutations in cell proliferation. (c3m-nice.fr)

If a genotype-phenotype correlation exists for a particular mutation, it will help these families have some perspective of what the future will bring, and it will help families cope with the disease. (news-medical.net)
The lipodystrophy mutation R482Q, which causes a different phenotype and is believed to act through an emerin-independent mechanism, was indistinguishable from wild-type in its localization and its ability to trap emerin at the nuclear rim. (biologists.com)
Our data reveal striking genotype-phenotype correlations and demonstrate that dominant GJB2 mutations can disturb the gap junction system of one or several ectodermal epithelia, thereby producing multiple phenotypes: nonsyndromic SNHL, syndromic SNHL with palmoplantar keratoderma, and KID. (qxmd.com)
Herein we describe the identification of the responsible gene and a missense mutation associated with the Silver phenotype. (biomedcentral.com)
One additional mutation located in intron 9, only 759 bases from the missense mutation, also showed complete association with the Silver phenotype. (biomedcentral.com)

DNA sequencing of PMEL17 in Silver and non-Silver horses revealed a missense mutation in exon 11 changing the second amino acid in the cytoplasmic region from arginine to cysteine (Arg618Cys). (biomedcentral.com)
a chestnut colored individual that had several Silver offspring when mated to different non-Silver stallions also carried the exon 11 mutation. (biomedcentral.com)
In total, 64 Silver horses from six breeds and 85 non-Silver horses from 14 breeds were tested for the exon 11 mutation. (biomedcentral.com)

One of these mutations was detected in six unrelated sporadic case subjects and also segregated in one family with vertical transmission of KID. (qxmd.com)
This study focuses on a germline mutation detected in sporadic parathyroid adenoma, Glycine9→Arginine (3). (unicampania.it)
Awareness of the possibility of activating mutation of CaSR gene in patients with sporadic idiopathic hypoparathyroidism is important because of its relevance to clinical management. (hkmj.org)

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)
Where reported resistant mutations can be mapped to other transcripts and also where there are overlapping genes and/or fusions at the same genomic location, the mutation will be identified as resistant in a given sample on ALL genes, fusions and transcripts. (sanger.ac.uk)
Moreover, discrete categories of PTEN mutations display non-identical patterns of co-occurrence with mutations in other genes important in CRC pathogenesis, including KRAS , APC , TP53 , and PIK3CA . (nature.com)
For KRAS and other genes commonly mutated in CRC ( APC , TP53 , MLH1 , and MSH2 ), the significance of the presence or absence of a mutation, and in some cases, the specific clinical characteristics associated with commonly recurring mutation hotspots 9 , are becoming well-understood and can help refine clinical management strategies. (nature.com)
However, some genes that function as important tumor suppressors or oncogenes in other tumor types are mutated at a relatively low frequency in CRC, limiting assessment of their mutation patterns in this disease. (nature.com)
NLRP7 gene mutations can also prevent proper imprinting of multiple genes that contribute to a developing embryo, leading to abnormal gene activity (expression). (medlineplus.gov)
To date, mutations in more than 200 genes have been linked to dystonic phenotypes that often present rare and specific subforms of dystonia including early onset, generalized dystonia. (thieme-connect.com)
It is caused by activating mutation of genes coding of the epithelial sodium channel in distal nephron. (bvsalud.org)
The latter group includes Liddle syndrome, a rare genetic disease with autosomal dominant inheritance, caused by gain-of-function mutations in the genes that code for the epithelial sodium channel (ENaC), involved in sodium reabsorption in the distal renal tubules. (bvsalud.org)
PURPOSE: Liddle syndrome is a hereditary form of arterial hypertension caused by mutations in the genes coding of the epithelial sodium channel - SCNN1A, SCNN1B and SCNN1G. (bvsalud.org)

Several mutations have been described, but when DNA analysis is proposed as a screening test for morbidity and mortality associated with iron overload in the setting of the general adult population, the only mutation of interest is C282Y. (cdc.gov)
The genotype of interest is homozygosity for the C282Y mutation. (cdc.gov)
The analytic performance (sensitivity and specificity) for the C282Y mutation is expected be consistent, regardless of the race/ethnicity of the population being tested. (cdc.gov)
Although the H63D mutation is not considered part of the screening test, the analytic sensitivity and specificity are similar to those described for the C282Y mutation, serving as further documentation of laboratory performance. (cdc.gov)
Given that this report is focusing on DNA testing for morbidity and mortality due to iron overload in the setting of general adult population screening, only the C282Y mutation is of interest (Question 4, Question 18). (cdc.gov)
A case-control study aimed to determine the prevalence of C282Y, H63D and S65C mutations of the HFE gene in β-thalassaemia carriers and investigate their influence on iron absorption. (who.int)
A total of 41 β-thalassaemia carriers and 40 control subjects without haemoglobinopathies were screened for the C282Y, H63D and S65C mutations by polymerase chain reaction-restriction fragment-length polymorphism. (who.int)
La présente étude cas-témoins visait à déterminer la prévalence des mutations C282Y, H63D et S65C du gène HFE chez les porteurs d'une β-thalassémie et à rechercher leur influence sur l'absorption du fer. (who.int)
Au total, 41 porteurs d'une β-thalassémie et 40 sujets témoins ne présentant aucune hémoglobinopathie ont participé à cette étude visant à examiner les mutations C282Y, H63D et S65C du gène HFE par la méthode du polymorphisme de longueur des fragments de restriction d'ADN amplifié. (who.int)

While SCA6 is related to repeat expansions affecting the C-terminal part of the protein, EA2 and FHM phenotypes are usually associated with nonsense and missense mutations leading to impaired channel properties.In three unrelated families with dominant cerebellar ataxia, symptoms cosegregated with CACNA1A missense mutations of evolutionary highly conserved amino acids (exchanges p.E668K, p.R583Q and p.D302N). (uni-luebeck.de)
This mutation substitutes a highly conserved cysteine residue by serine in a calcium binding epidermal growth factor-like domain (cbEGF) of FBN1. (molvis.org)

In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. (wikipedia.org)
Missense mutation refers to a change in one amino acid in a protein, arising from a point mutation in a single nucleotide. (wikipedia.org)
A missense mutation is a change in one nucleotide in DNA that results in a codon for a different amino acid in the protein made by the gene. (news-medical.net)
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)
Within groups separated by MSS/MSI status, this identifies distinct profiles of nucleotide hotspots, and suggests differing profiles of protein-damaging effects of mutations. (nature.com)

A MEI1 homozygous missense mutation associated with meiotic arrest in a consanguineous family. (nih.gov)

These results indicate the presence of a common, recurrent mutation and establish its autosomal dominant nature. (qxmd.com)
More than 75 mutations in the NLRP7 gene have been found to cause a pregnancy-related condition called recurrent hydatidiform mole. (medlineplus.gov)
NLRP7 gene mutations account for recurrent hydatidiform mole in about 55 percent of women with this condition. (medlineplus.gov)
The NLRP7 gene mutations that cause recurrent hydatidiform mole lead to production of a protein with reduced function or prevent production of any protein at all. (medlineplus.gov)
Novel biallelic mutations in MEI1: expanding the phenotypic spectrum to human embryonic arrest and recurrent implantation failure. (nih.gov)

Messing up disorder: how do missense mutations in the tumor suppressor protein APC lead to cancer? (wikipedia.org)
Molecules that regulate the mechanisms of their oncogenic activation represent novel targets for limiting tumor cell progression, and further elucidation of these mutations will have utility in prostate cancer treatment. (mssm.edu)
Loss of expression or activity of the tumor suppressor PTEN acts similarly to an activating mutation in the oncogene PIK3CA in elevating intracellular levels of phosphatidylinositol (3,4,5)-trisphosphate (PIP3), inducing signaling by AKT and other pro-tumorigenic signaling proteins. (nature.com)
We identify specific patterns of PTEN mutation associated with microsatellite stability/instability (MSS/MSI), tumor mutational burden (TMB), patient age, and tumor location. (nature.com)
and (d) validating the candidate gene as a tumor suppressor through the identification of truncating or missense mutations as well as by growth and tumor suppressing assays. (cdc.gov)

800 microM) occurs in individuals with large deletions and/or PRODH missense mutations with the most-severe effect on function (L441P and R453C), whereas modest hyperprolinemia (300-500 microM) is associated with PRODH alleles with a moderate reduction in activity. (nih.gov)
1%) are typically large deletions or inversions or point mutations that disrupt gene expression. (msdmanuals.com)

In women with NLRP7 gene mutations, a hydatidiform mole will develop in every pregnancy that occurs with her egg cells. (medlineplus.gov)
Additionally, NLRP7 gene mutations result in slowed release of interleukin-1 beta. (medlineplus.gov)
The iron status in these subjects was studied and correlated with the HFE gene mutations. (who.int)
Our study has shown that the HFE gene mutations are common in Egypt among β-thalassaemia carriers compared with normal controls. (who.int)

This new study is just the fourth clinically relevant association between specific mutations and specific symptoms that have been discovered for neurofibromatosis type 1. (news-medical.net)
for example, in CRC, the choice of first-line therapy depends on the presence or absence of specific mutations in KRAS that confer resistance to the EGFR-targeted monoclonal antibody cetuximab 8 . (nature.com)

Missense mutation is a type of nonsynonymous substitution in a DNA sequence. (wikipedia.org)
Two other types of nonsynonymous substitution are the nonsense mutations, in which a codon is changed to a premature stop codon that results in truncation of the resulting protein, and the nonstop mutations, in which a stop codon erasement results in a longer, nonfunctional protein. (wikipedia.org)
this would be a synonymous substitution and not a missense mutation. (wikipedia.org)
Patients who become resistant to imatinib treatment often develop secondary mutations, the most common of which results in a substitution of isoleucine for threonine at the same location in the ATP-binding domain in all three kinases (in KIT this occurs at amino acid 670). (medscape.com)
In each of 10 patients with KID, we identified a point mutation leading to substitution of conserved residues in the cytoplasmic amino terminus or first extracellular domain of Cx26. (qxmd.com)
Results As model mutation we selected the F9 p.R294Q, representing the most frequent substitution (~100 patients) associated with severe/moderate type I HB. (unife.it)

Patients with gemistocytic astrocytoma with oligodendroglial differentiation, IDH1 samples from a Li-Fraumeni family with and secondary glioblastoma with RRAS mutation, and 1p/19q loss, suggesting a TP53 germline mutation and multiple deletion tended to have shorter survival that FUBP1 immunohistochemistry is nervous system tumours revealed times than those without deletion. (who.int)

To describe a novel mutation in the fibrillin-1 ( FBN1 ) gene in a large Pakistani family with autosomal dominant Marfan syndrome (MFS). (molvis.org)

Missense mutations can render the resulting protein nonfunctional, and such mutations are responsible for human diseases such as Epidermolysis bullosa, sickle-cell disease, SOD1 mediated ALS, and a substantial number of cancers. (wikipedia.org)
Thus, the 6th amino acid glutamic acid is substituted by valine-notated as an "E6V" mutation-and the protein is sufficiently altered to cause the sickle-cell disease. (wikipedia.org)
Not all missense mutations lead to appreciable protein changes. (wikipedia.org)
DNA: 5' - AAC AGC CTG CGT ACG GCT CTC - 3' 3' - TTG TCG GAC GCA TGC CGA GAG - 5' mRNA: 5' - AAC AGC CUG CGU ACG GCU CUC - 3' Protein: Asn Ser Leu Arg Thr Ala Leu LMNA missense mutation (c.1580G>T) introduced at LMNA gene - position 1580 (nt) in the DNA sequence (CGT) causing the guanine to be replaced with the thymine, yielding CTT in the DNA sequence. (wikipedia.org)
The resulting transcript and protein product is: DNA: 5' - AAC AGC CTG CTT ACG GCT CTC - 3' 3' - TTG TCG GAC GAA TGC CGA GAG - 5' mRNA: 5' - AAC AGC CUG CUU ACG GCU CUC - 3' Protein: Asn Ser Leu Leu Thr Ala Leu Cancer associated missense mutations can lead to drastic destabilisation of the resulting protein. (wikipedia.org)
Our results showed that ~71% of the potential missense mutations destabilize MPO, and ~8% stabilize the MPO protein. (mdpi.com)
Western blot analysis showed that these EGFR mutations enhanced cell growth and invasion via constitutive and hyperactive tyrosine phosphorylation and led to the activation of mitogen-activated protein kinase (MAPK), signal transducer and activator of transcription 3 (STAT3) and Akt pathways. (mssm.edu)
To evaluate pathogenic effects, in silico, protein modeling analyses were performed which indicate structural alterations of the novel mutation p.E668K within the homologous domain 2 affecting CACNA1A protein function. (uni-luebeck.de)
Background Amino acid substitutions caused by missense mutations, representing the most frequent gene alteration associated with human disease including coagulation factor disorders, exert the most detrimental effect by impairing protein folding and intracellular trafficking. (unife.it)
Scope includes mutations and abnormal protein expression. (cancerindex.org)

NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment. (uib.no)
Mutations in isoleucyl-tRNA synthetase ( IARS1 ) have recently been reported to be a genetic cause for growth retardation, intellectual disability, muscular hypotonia, and infantile hepatopathy (GRIDHH). (springer.com)
Mutations in isoleucyl-tRNA synthetase (IARS1 OMIM # 600709) have been linked to growth retardation, intellectual disability, muscular hypotonia, and infantile hepatopathy (GRIDHH, OMIM 617093), which was first reported by Kopajtich et al. (springer.com)

The initial characterization of 78 individuals in the Medical Genomics Laboratory cohort with mutations affecting the amino acids 844-848 led to the identification of a genotype correlation and the study was further expanded to include another 84 individuals from collaborating centers. (news-medical.net)

We sequenced the exons, splice sites and 5′ and 3′ untranslated regions in 27 randomly selected MS patients (powered for allele frequency ≥0.04) to search for mutations. (elsevierpure.com)

Research led by Ludwine Messiaen, Ph.D., professor of genetics at the University of Alabama at Birmingham, shows that missense mutations in a cluster of just five codons in the NF1 gene are an important risk factor for severe symptoms of the genetic disease neurofibromatosis type 1. (news-medical.net)

All possible point mutations in the DNA triplet codon that could result in amino acid substitutions at Thr670 (Thr670Arg, Thr670Ile, Thr670Lys, Thr670Ala, Thr670Ser, Thr670Pro) were introduced by site-specific mutagenesis of the complementary DNA for a constitutively active, imatinib-sensitive form of the KIT receptor, Δ559/KIT. (medscape.com)
Relating to a mutation that changes a codon for one amino acid into a codon for a different amino acid. (dictionary.com)

These findings enlarge the phenotypic spectrum of CACNA1A mutations. (uni-luebeck.de)
A chestnut or sorrel horse that only express pheomelanin, will not show any obvious phenotypic effects of the Silver mutation (Figure 3 ), however it is possible that there exist subtle effects of dilution on pheomelanin. (biomedcentral.com)

C encoding Ile314Leu) that cause missense substitutions within the homeodomain. (ox.ac.uk)

One hundred-thirty controls were screened for a mutation in the FBN1 gene that was identified in this family by restriction fragment length polymorphism (RFLP) analysis. (molvis.org)

The UAB Medical Genomics Laboratory has collected DNA and identified a pathogenic mutation on the more than 8,100 unrelated neurofibromatosis type 1 patients. (news-medical.net)
Using transfection of lamin-A/C-deficient fibroblasts, we have studied the effects of nine pathogenic mutations on the ability of lamin A to assemble normally and to localize emerin normally at the nuclear rim. (biologists.com)

We utilized in silico saturation mutagenesis to generate and analyze the effects of 10,811 potential missense mutations on MPO stability. (mdpi.com)

This section shows pathways affected by this mutation. (sanger.ac.uk)

2%) but, when they did so, emerin was absent,consistent with a direct effect of the mutations on emerin binding. (biologists.com)
The DNA test associated with HHC is qualitative (i.e., a mutation is reported as present or absent). (cdc.gov)
This mutation was present in all affected members and absent from unaffected individuals of the family in addition to 130 healthy Pakistani controls. (molvis.org)

Aims The aims of our study were to i) detail the altered intracellular processing of a panel of factor IX (FIX) missense variants causing severe type I Hemophilia B (HB), and ii) to rescue their intracellular processing, secretion and activity through chaperone-like compounds. (unife.it)
In addition, our expression platform is proposed for other missense mutations leading to severe type I Hemophilia to select those being responsive to chaperone-like compounds. (unife.it)
Hemophilia is an inherited disorder that results from mutations, deletions, or inversions affecting the factor VIII or factor IX gene. (msdmanuals.com)
In contrast, hemophilia that is mild or moderate typically involves with point mutations that result in an amino acid change (missense mutation). (msdmanuals.com)

The novel hypothesis suggested by the data is that EDMD/CMD1A mutations in the tail domain of lamin A/C work by direct impairment of emerin interaction,whereas mutations in the rod region cause defective lamina assembly that might or might not impair emerin capture at the nuclear rim. (biologists.com)
Identification of cancer-associated missense mutations in hace1 that impair cell growth control and Rac1 ubiquitylation. (c3m-nice.fr)

Is the Subject Area "Nonsense mutation" applicable to this article? (plos.org)

This finding demonstrates that a SMARCB1 mutation may be the initial "hit" (constitutional) for a genetic disorder with subsequent risk of developing schwannomas and other malignancies, and raises the possibility that other patients with switch/sucrose non-fermenting (SWI/SNF) mutations may be at increased risk for tumors. (nih.gov)
Individuals with such mutations, the researchers found, have a high incidence of benign tumors of peripheral nerves or the spinal cord, tumors of the optic nerve, and skeletal abnormalities. (news-medical.net)

It shows a potential need for increased disease surveillance of patients with missense mutations in that cluster -- specifically, codons 844 to 848. (news-medical.net)
One of the missense mutations identified in patients with osteoclast-poor autosomal recessive osteopetrosis (ARO) is located in residue methionine 199 that is replaced with lysine (M199K) amid the TNF-like core domain. (edu.hk)
Summary/Conclusion Altogether our data contribute to detail molecular mechanisms underlying type I HB and candidate NaPBA as a potential "personalized" option for the high number of patients affected by the frequent p.R294Q mutation. (unife.it)
A significant proportion of patients formerly diagnosed with idiopathic hypoparathyroidism actually have activating mutation of the calcium-sensing receptor (CaSR) gene. (hkmj.org)
Kalydeco (ivacaftor) film-coated tablets are a CFTR potentiator indicated for the treatment of a rare form of cystic fibrosis ( CF ) in patients ages 6 years and older who have the specific G551D mutation in the Cystic Fibrosis Transmembrane Regulator (CFTR) gene. (rxlist.com)
KALYDECO is indicated for the treatment of cystic fibrosis (CF) in patients age 4 months and older who have one mutation in the CFTR gene that is responsive to ivacaftor potentiation based on clinical and/or in vitro assay data [see CLINICAL PHARMACOLOGY and Clinical Studies ]. (rxlist.com)
This is a first report of a mutation in FBN1 in MFS patients of Pakistani origin. (molvis.org)
The identification of a FBN1 mutation in this family confirms the diagnosis of MFS patients and expands the worldwide spectrum of FBN1 mutations. (molvis.org)
PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. (cdc.gov)

While epidermal growth factor receptor (EGFR) dysregulation is known to play a critical role in prostate carcinogenesis, there has been no direct evidence indicating EGFR mutations induce tumorigenesis in prostate cancer. (mssm.edu)
Our findings demonstrate the oncogenic activation of three novel EGFR somatic missense mutations in prostate cancer. (mssm.edu)

Legacy mutation identifier (COSM) represents existing COSM mutation identifiers. (sanger.ac.uk)

Recently, mutations of CDKN1B (p27 encoding gene) have been found with a statistical significance in human cancers: along with frameshifts, some missense changes were associated to Multiple Endocrine Neoplasia, neuroendocrine tumours and other cancers (2). (unicampania.it)
Heterozygous mutations of human HOXD13, encoding polyalanine expansions or frameshifts, are believed to act by dominant negative or haploinsufficiency mechanisms and are predominantly associated with synpolydactyly phenotypes. (ox.ac.uk)

Moreover, mice treated with WTC-PM developed an increased burden of mutations in hematopoietic stem and progenitor cell compartments. (cdc.gov)

At least 16 PRODH missense mutations have been identified in studies of type I hyperprolinemia (HPI) and schizophrenia, 10 of which are present at polymorphic frequencies. (nih.gov)

Genomic mutation identifier (COSV) to indicate the definitive position of the variant on the genome. (sanger.ac.uk)

Blood and tissue analysis of multiple subsequent schwannoma resections revealed a germline missense mutation of SMARCB1, acquired loss of 22q including SMARCB1 and NF2 and mutation of the remaining NF2 wild-type allele-thus completing the four-hit, three-event mechanism associated with schwannomatosis. (nih.gov)

Such information is vital to help guide clinical management and genetic counseling in this complex disease that can be caused by more than 3,000 different mutations found in every part of this large NF1 gene. (news-medical.net)
To look for correlations, Messiaen and her team collect detailed clinical information on all symptoms found in each of the neurofibromatosis individuals who had their mutation identified through clinical testing at the UAB Medical Genomics Laboratory. (news-medical.net)
Data are compared to large clinical cohorts previously reported in the literature, as well as to the internal Medical Genomics Laboratory dataset on more than 8,100 unrelated mutation-positive individuals. (news-medical.net)
The kaleidoscope of clinical signs in neurofibromatosis type 1 is mirrored by an abundance of different mutations in the NF1 gene. (news-medical.net)

Currently available information from screening studies on the frequency of detection of MCADD in newborns, as well as the frequency of homozygotes for the common mutation in the ACADM gene, is summarized. (cdc.gov)
isolates from Vietnam and determined the in vitro mutation frequency of these strains during drug exposure. (cdc.gov)

abstract = "Germline missense mutations in the BAF swi/snf chromatin remodeling subunit SMARCA4 are associated with neurodevelopmental disorders, including Coffin Siris Syndrome (CSS). (kcl.ac.uk)

No consistent differences were found for the Ser308Cys mutation compared with the wild type, but the Ile314Leu mutation (which resides at the 47th position of the homeodomain) exhibited increased affinity for a target containing the core recognition sequence 5'-TTAC-3' but decreased affinity for a 5'-TTAT-3' target. (ox.ac.uk)
Immunofluorescence studies on stably expressing cells revealed that, at variance from wild-type rFIX, missense variants mainly co-localized in the ER and scarcely with Golgi, thus indicating impaired intracellular trafficking. (unife.it)

Molecular modeling of the Ile314Leu mutation indicates that this mixed gain and loss of affinity may be accounted for by the relative positions of methyl groups in the amino acid side chain and target base. (ox.ac.uk)

showed high rates of mutation within a wide range of We compared the in vitro activity of anti-TB drugs drug concentrations, possibly explaining this genotype's against susceptible Beijing and EAI M. tuberculosis association with multidrug-resistant tuberculosis. (cdc.gov)

Missense mutation, altered isoelectric point. (yale.edu)

Anatomy12

Organisms11

Diseases39

Chemicals and Drugs66

Analytical, Diagnostic and Therapeutic Techniques and Equipment28

Psychiatry and Psychology2

Phenomena and Processes104

Disciplines and Occupations1

Anthropology, Education, Sociology and Social Phenomena1

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Health Care7

Somatic mutations5

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Germline mutations1

Functional4

Phenotype5

Exon3

Sporadic3

Genes10

C282Y9

Highly conserved2

Nucleotide5

Homozygous1

Recurrent5

Tumor5

Large deletions2

Gene mutations4

Specific mutations2

Substitution6

Deletion1

Autosomal dominant1

Protein10

Intellectual Disability3

Amino acids1

Exons1

Genetics1

Codon2

Phenotypic2

Substitutions1

Polymorphism1

Pathogenic2

Silico1

Pathways affected1

Absent3

Hemophilia4

Impair2

Nonsense1

Tumors2

Patients9

Cancer2

COSM1

Frameshifts2

Burden1

Hyperprolinemia1

Genomic1

Allele1

Clinical4

Frequency2

Abstract1

Type2

Molecular1

Vitro1

Point1