G6PC R83H - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

G6PC R83H

(G6PC Arg83His)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (20 hits -- see all)
  • Mutations in the Glucose-6-Phosphatase-α (G6PC) Gene that ...
    G6PC is a key enzyme for the maintenance of glucose homeostasis ... R83C, p.R83H, p.H119L, p.R170Q, and p.H176A completely abolish G6PC enzymatic activity, ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2475600
  • Type I Glycogen Storage Diseases
    Twelve additional mutations have been mapped to the G6PC gene: R83H, I341D, G188R, A124T, IVS1DS (mutation in the splice donor site of intron 1) ...
    themedicalbiochemistrypage.org/vongierkedisease.html
  • P1-1: THE DIVERSE PHYSIOLOGICAL FUNCTIONS AND ...
    Department of Immunology and Infectious Diseases, Harvard School of ... previously identified a novel Krüppel-like zinc finger protein ZBTB20 (DPZF), which is ...
    ideaexplore.net/conference/Abstracts (Posters).pdf
  • Glycogenosis type I or von Gierke's disease
    ... and R83C mutations. have never been found, R83H is very rare, but ... mutations in the glucose-6-phosphatase (G6PC) gene which cause glycogen storage disease ...
    www.orpha.net/data/patho/GB/uk-glycogenosis1.pdf
  • Glycogénose de type I ou maladie de von Gierke
    seule fois, alors que la mutation R83H rend. compte de 40% environ des ... mutations in the glucose-6-phosphatase (G6PC) gene which cause glycogen storage disease ...
    www.orpha.net/data/patho/FR/fr-GSD1.pdf
  • Handbuch der monogenen Erbmerkmale beim Hund
    70 Schematische Darstellung des caninen G6PC-Gens und Lage der bisher. identifizierten ... 71 Exon 3 des caninen G6PC-Gens mit flankierender Intronsequenz. ...
    webdoc.sub.gwdg.de/diss/2008/redde/redde.pdf
  • 遺傳學問題有關 G6PC的PCR primer - Yahoo!奇摩知識+
    請問我要找G6PC其中一段 R83H的PCR primer還有相關PAPER 謝謝
    tw.knowledge.yahoo.com/question/question?qid=1607071108318
  • 糖原累积病I型诊治进展_上海新华医院邱文娟大夫个人网站
    表达和酶残留活性分析发现K76N、R83C、R83H、H119L、R170Q和跨膜区64.5%的突变可导致酶活性完全丧失,其它位点的突变仅使酶活性部分丧失。 G6PC突变有明显人种和地区差异,高加索人群中R83C和 ... G6PC基因被克隆之前GSD I的诊断主要是肝活检测定G6PC活性,GSD I型产前诊断也是通过胎儿肝穿刺测定G6PC活性。 ...
    qiuwenjuan.haodf.com/wenzhang/49600.htm
  • Mutation and Polymorphism Report
    an A-to-G transition at nucleotide 46 of the G6PC cDNA, predicting a replacement of hydrophilic ... allele was R83H, which was previously reported to be the most ...
    interscience.wiley.com/homepages/.../pdf/mutation/mpr105.pdf
  • Molecular Genetic Analysis of 40 Patients with Glycogen ...
    However, in 1993 the gene (G6PC; GDB 231927) spanning 12.5 kb on chromosome 17 and ... The mutation R83H which has been described as the most prevalent mutation in the Chinese ...
    interscience.wiley.com/journal/38515/.../mutation/282.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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