*  Detection of heterozygous mutation in hook microtubule-tethering protein 1 in three patients with decapitated and decaudated...
Results A novel missense mutation of A to G (p.Q286R) in patients with DDS (n=3/7) was found in the HOOK1 gene, which was ... Detection of heterozygous mutation in hook microtubule-tethering protein 1 in three patients with decapitated and decaudated ... Detection of heterozygous mutation in hook microtubule-tethering protein 1 in three patients with decapitated and decaudated ... Conclusions An unreported mutation in HOOK1 gene was identified, which might be responsible to some patients with DDS. Further ...
  http://jmg.bmj.com/content/early/2018/01/12/jmedgenet-2016-104404
*  PLOS Computational Biology: Disease-Associated Mutations Disrupt Functionally Important Regions of Intrinsic Protein Disorder
Here we demonstrate that ,20% of disease-associated missense mutations affect IDRs and interfere with their functions. We ... Our findings have broad implications for improving predictors of the functional impact of missense mutations, and for ... Our results refine the traditional structure-centric view of disease mutations and offer a new perspective on the role of non- ... Disordered proteins do not conform to the prevailing view of deleterious mutations which equates function, structure and ...
  http://journals.plos.org/ploscompbiol/article/related?id=10.1371/journal.pcbi.1002709&imageURI=info:doi/10.1371/journal.pcbi.1002709.g005
*  Presence of rd8 mutation does not effect the Lete-Onset Retinal Degeneration (L-ORD) phenotype in C57BL/6 mice with S163R Ctrp5...
... mutation on the retinal phentoype of the L-ORD mouse model with heterozygous S163R missense mutation in the C1Q-Tumor Necrosis ... To study the influence of the rd8 mutation on L-ORD phenotype, mouse lines carrying both the Ctrp5 S163R and the rd8 mutation ( ... Ctrp5+/-;rd8/rd8), without the rd8 mutation (Ctrp5+/-;wt/wt); and wild type mice with and without the rd8 mutation (Wtrd8/rd8 ... Presence of rd8 mutation does not effect the Lete-Onset Retinal Degeneration (L-ORD) phenotype in C57BL/6 mice with S163R Ctrp5 ...
  http://iovs.arvojournals.org/article.aspx?articleid=2332687
*  Plus it
... and mutations affecting a splicing site) mutations in MODY3 and HCA spectra. Thus, there were 63 and 55% of missense mutations ... A: IVS1-2 A,T or IVS1-1 G,T mutations. B: IVS2 + 1 G,A or IVS2 + 1 del 13 bp mutations. C: IVS2-2 A,G mutation. D: IVS5 + 1 G,T ... Among the mutations, 57 were missense, 62 were frameshift and nonsense, and 12 were mutations affecting a splicing site. The ... Similarly, we can hypothesize that frequent MODY3 missense mutations located outside the POU-H domain and mutations truncating ...
  http://diabetes.diabetesjournals.org/content/59/7/1836
*  Determining the role of missense mutations in the POU domain of HNF1A that reduce the DNA-binding affinity: A computational...
Missense mutations in the POU homeodomain (POUH) of HNF1A hinder binding to the DNA, thereby leading to a dysfunctional protein ... Missense mutations of the HNF1A were retrieved from public databases and subjected to a three-step computational mutational ... Determining the role of missense mutations in the POU domain of HNF1A that reduce the DNA-binding affinity: A computational ... Over the past years, several studies have reported the association of missense mutations in the Hepatocyte Nuclear Factor 1 ...
  http://qspace.qu.edu.qa/handle/10576/5484
*  Protein stability versus function: effects of destabilizing missense mutations on BRCA1 DNA repair activity. | Sigma-Aldrich
Protein stability versus function: effects of destabilizing missense mutations on BRCA1 DNA repair activity.. [David C A ... Previously, we quantified the effects of missense mutations on the thermodynamic stability of the BRCT domains, and we showed ... By contrast, the mutation R1699L, which disrupts the binding of phosphorylated proteins (but which is not destabilizing), was ... Mutations in breast cancer susceptibility gene BRCA1 (breast cancer early-onset 1) are associated with increased risk of ...
  https://www.sigmaaldrich.com/catalog/papers/25748678
*  What is missense mutation? | Reference.com
A missense mutation occurs when a gene is altered in a way that results in a different amino acid being substituted for the one ... A missense mutation occurs when a gene is altered in a way that results in a different amino acid being substituted for the one ... A missense mutation in the gene coding for the protein hemoglobin substitutes the base thymine for adenine. This results in the ... What is a silent mutation?. A: A silent mutation occurs when a DNA message changes but the message still codes for the same ...
  https://www.reference.com/science/missense-mutation-179d25648fa1afe4
*  Identification of Missense Mutation (I12T) in the BSND Gene and Bioinformatics Analysis
... Hina Iqbal,1 Tayyba Sarfaraz,2 Farida ... Hina Iqbal, Tayyba Sarfaraz, Farida Anjum, Zubair Anwar, and Asif Mir, "Identification of Missense Mutation (I12T) in the BSND ...
  https://www.hindawi.com/journals/bmri/2011/304612/cta/
*  Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae | Genetics
Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae. Alison E Gammie, Naz ... Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae. Alison E Gammie, Naz ... Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae. Alison E Gammie, Naz ... Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae Message Subject (Your Name ...
  http://www.genetics.org/content/early/2007/08/24/genetics.107.071084
*  Functionally null RAD51D missense mutation associates strongly with ovarian carcinoma | Cancer Research
Functionally null RAD51D missense mutation associates strongly with ovarian carcinoma. Barbara Rivera, Massimo Di Iorio, ... Functionally null RAD51D missense mutation associates strongly with ovarian carcinoma. Barbara Rivera, Massimo Di Iorio, ... Functionally null RAD51D missense mutation associates strongly with ovarian carcinoma. Barbara Rivera, Massimo Di Iorio, ... Functionally null RAD51D missense mutation associates strongly with ovarian carcinoma Message Subject (Your Name) has forwarded ...
  http://cancerres.aacrjournals.org/content/early/2017/06/23/0008-5472.CAN-17-0190
*  MAFA missense mutation causes familial insulinomatosis and diabetes mellitus | Proceedings of the National Academy of Sciences
MAFA missense mutation causes familial insulinomatosis and diabetes mellitus Message Subject (Your Name) has sent you a message ... MAFA missense mutation causes familial insulinomatosis and diabetes mellitus. Donato Iacovazzo, Sarah E. Flanagan, Emily Walker ... Strikingly, the missense p.Ser64Phe MAFA mutation was associated with either of two distinct phenotypes, multiple insulin- ... The human phenotypes associated with the p.Ser64Phe MAFA missense mutation reflect both the oncogenic capacity of MAFA and its ...
  http://www.pnas.org/content/115/5/1027.short?rss=1
*  PLOS Genetics: Missense Mutation in Exon 2 of SLC36A1 Responsible for Champagne Dilution in Horses
Missense Mutation in Exon 2 of SLC36A1 Responsible for Champagne Dilution in Horses. Table 2. Genotyping Results for c.188(C/G ...
  http://journals.plos.org/plosgenetics/article/figure?id=10.1371/journal.pgen.1000195.t002
*  Search: protein class:COSMIC Missense Mutations - The Human Protein Atlas
annotations (the reliablity of the annotated protein expression using immunohistochemically (IH) stained on human tissues, the reliablity of the annotated protein expression in immunofluorescently (IF) stained human cell lines, tissue specificity (the distribution of antibody staining or protein expression in human cell types), cell line specificity (the distribution of RNA abundance in cell lines) and subcellular location (based on immunofluorescent staining of cell lines ...
  https://www.proteinatlas.org/search/protein_class:COSMIC+Missense+Mutations
*  Missense mutation - Wikipedia
In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a ... Missense mutation or substitution refers to a change in one amino acid in a protein, arising from a point mutation in a single ... Missense mutations can render the resulting protein nonfunctional, and such mutations are responsible for human diseases such ... this would be a silent mutation (a type of synonymous substitution, which is not always silent) and not a missense mutation. ...
  https://en.wikipedia.org/wiki/Missense_mutation
*  A missense mutation at Ile172--|Asn or Arg356--|Trp causes steroid 21-hydroxylase deficiency.
A missense mutation at Ile172--,Asn or Arg356--,Trp causes steroid 21-hydroxylase deficiency.. Chiou S.-H., Hu M.-C., Chung B.- ... Both mutations are present in the CYP21A1P pseudogene, suggesting that they may be transferred from CYP21A1P by gene conversion ... Many forms of CAH exist resulting from various mutations of the CYP21B gene. We sequenced CYP21B cDNA from a normal person and ... Mutants corresponding to Asn172 or Trp356 mutation were constructed by site-directed mutagenesis of the normal c21 cDNA clone. ...
  https://www.uniprot.org/citations/2303461
*  P4HB recurrent missense mutation causing Cole-Carpenter syndrome | Journal of Medical Genetics
P4HB recurrent missense mutation causing Cole-Carpenter syndrome Message subject: (Your Name) has forwarded a page to you from ...
  http://jmg.bmj.com/content/early/2017/12/19/jmedgenet-2017-104899.share
*  P4HB recurrent missense mutation causing Cole-Carpenter syndrome | Journal of Medical Genetics
P4HB recurrent missense mutation causing Cole-Carpenter syndrome. Journal of Medical Genetics Published Online First: 20 ...
  http://jmg.bmj.com/content/early/2017/12/19/jmedgenet-2017-104899.info
*  A Missense Mutation in CD38 Associated with Autism Spectrum Disorder in Three Pedigrees | IntechOpen
A Missense Mutation in CD38 Associated with Autism Spectrum Disorder in Three Pedigrees , IntechOpen, Published on: 2011-08-17 ... A Missense Mutation in CD38 Associated with Autism Spectrum Disorder in Three Pedigrees. Haruhiro Higashida1, 2, Toshio Munesue ... A Missense Mutation in CD38 Associated with Autism Spectrum Disorder in Three Pedigrees. By Haruhiro Higashida, Toshio Munesue ... 1998 A missense mutation in the CD38 gene, a novel factor for insulin secretion: association with Type II diabetes mellitus in ...
  https://www.intechopen.com/books/autism-a-neurodevelopmental-journey-from-genes-to-behaviour/a-missense-mutation-in-cd38-associated-with-autism-spectrum-disorder-in-three-pedigrees/
*  A Rare Y Chromosome Missense Mutation in Exon 25 of Human USP9Y Revealed by Pyrosequencing | SpringerLink
A Rare Y Chromosome Missense Mutation in Exon 25 of Human USP9Y Revealed by Pyrosequencing. ... The mutation is in close linkage (four bases distant) from a silent mutation, referred to as M222 (p.E1212E, c.3636G→A). In our ... Nonetheless, mutations in this gene could result in the over- or under-abundance of proteins involved in the regulation of ... This new mutation is expected to represent a new haplogroup, (R1b1c10a); therefore, within our population of individuals from ...
  https://link.springer.com/article/10.1007%2Fs10528-007-9139-1
*  Rabson Mendenhall Syndrome caused by a novel missense mutation | Springer for Research & Development
It occurs due to mutations in the insulin receptor gene. Few mutations... ... This particular missense mutation has not been reported previously in patients with RMS. Polyphen2 online tool was used to ... Genetic studies revealed a homozygous missense mutation in the Insulin receptor gene confirming the diagnosis of Rabson ... It occurs due to mutations in the insulin receptor gene. Few mutations which are associated with Rabson Mendenhall syndrome ...
  https://rd.springer.com/article/10.1186/s13633-016-0039-1
*  Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene - Ugalde - 2003 - Annals...
Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. Authors. *. Cristina ... We describe a novel mutation in the ND6 gene (T14487C) in a patient with Leigh syndrome. Biochemical analyses indicated a low ... C mutation in complex I-deficient Leigh syndrome, Developmental Medicine & Child Neurology, 2012, 54, 6, 500. Wiley Online ... C mitochondrial DNA mutation resulted in the birth of a healthy boy, Human Reproduction, 2017. CrossRef ...
  http://onlinelibrary.wiley.com/doi/10.1002/ana.10734/abstract?globalMessage=0
*  IJMS | Free Full-Text | Predicting the Functional Impact of CDH1 Missense Mutations in Hereditary Diffuse Gastric Cancer
... of cases the mutations are of the missense type. The latter are of particular concern in terms of genetic counselling and ... In that context, our group has contributed to better characterize CDH1 germline missense variants and is now considered a ... Therefore, over the last few years, intensive research has focused on evaluating the functional consequences of CDH1 missense ... Predicting the Functional Impact of CDH1 Missense Mutations in Hereditary Diffuse Gastric Cancer. Soraia Melo 1,2,3. ...
  http://www.mdpi.com/1422-0067/18/12/2687
*  A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice. | Sigma-Aldrich
A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice.. [Rebecca M Boumil, ... Fitful is a missense mutation in an exon that defines the DNM1a isoform, leaving intact the alternatively spliced exon that ... In mice, the mutation results in defective synaptic transmission characterized by a slower recovery from depression after ... Mice heterozygous for a novel spontaneous Dnm1 mutation--fitful--experience recurrent seizures, and homozygotes have more ...
  https://www.sigmaaldrich.com/catalog/papers/20700442
*  Identification of a Novel Heterozygous Missense Mutation in the CACNA1F Gene in a Chinese Family with Retinitis Pigmentosa by...
Mutation Screening and Validation. A heterozygous missense mutation (c.1555C,T, p.R519W) located in exon 13 of the CACNA1F gene ... The pathogenicity of novel missense mutations was predicted by dbNSFP [23]. The Human Gene Mutation Database (HGMD) was used to ... A heterozygous missense mutation (c.1555C,T, p.R519W) was identified by NGS in exon 13 of the CACNA1F gene on X chromosome, and ... Conclusion. By using NGS, we have found a novel heterozygous missense mutation (c.1555C,T, p.R519W) in CACNA1F gene, which is ...
  https://www.hindawi.com/journals/bmri/2015/907827/
*  IL17RD Gene - GeneCards | I17RD Protein | I17RD Antibody
Some patients carrying mutations in IL17RD also have a heterozygous mutation in another HH-associated gene including FGFR1 and ... reference, missense, utr-variant-5-prime. rs369641068. other, Hypogonadotropic hypogonadism 18 with or without anosmia (HH18) [ ... Human Gene Mutation Database (HGMD). IL17RD SNPedia medical, phenotypic, and genealogical associations of SNPs for. IL17RD ... reference, missense. rs184758350. Pathogenic, Hypogonadotropic hypogonadism 18 with or without anosmia (HH18) [MIM:615267]. ...
  http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL17RD