ARG1 G235R - GET-Evidence

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

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Curation:
Currentness:

ARG1 G235R

(ARG1 Gly235Arg)


Short summary

 

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

Impact

Insufficiently evaluated pathogenic

(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
 

    OMIM
  • Argininemia
    www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608313
    PolyPhen-2
  • Score: 0.904 (probably damaging)
    Web search results (10 hits -- see all)
  • OMIM: 608313
    Arg1 knockout mice died by 14 days of age from hyperammonenemia, while Arg2 ... in exon 7 of the ARG1 gene, resulting in a gly235-to-arg (G235R) substitution. ...
    www.genome.jp/dbget-bin/www_bget?omim+608313
  • Arginase-1 - Rattus norvegicus (Rat)
    Arg1. Organism. Rattus norvegicus (Rat) Taxonomic identifier. 10116 ... "Functional consequences of the G235R mutation in liver arginase leading to ...
    www.uniprot.org/uniprot/P07824
  • ARGINASE DEFICIENCY
    ... the Liver-Type Arginase Gene (ARG1) in Four Portuguese Patients with ... Functional Consequences of the G235R Mutation in Liver Arginase. Leading to ...
    www.oregon.gov/DHS/ph/nbs/docs/arginase.pdf
  • Microsoft Word - arg_ref
    Mutation in the Liver-Type Arginase Gene (ARG1) in Four Portuguese Patients with ... Functional Consequences of the G235R Mutation in Liver. Arginase Leading to ...
    www.idph.state.ia.us/genetics/common/pdf/arg_ref.pdf
  • Mendelian Inheritance in Man Document Reader
    The ARG1 gene is 11.5 kb long and is split into 8 exons (Takiguchi et ... proteins previously analyzed, such as G235R and W122X (207800.0005), had less ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+207800
  • WikiGenes - Arg1 - arginase 1, liver
    The world's first wiki where authorship really matters. Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts.
    www.wikigenes.org/e/gene/e/29221.html
  • Arg1 - arginase, liver
    Edit this page in Wiki Genes - Arg1 or see Wiki Gene. Over-expressing Arginase I in ... The G235R (patient) and G235A (control) arginase mutants of rat liver arginase ...
    www.ihop-net.org/UniPub/iHOP/bng/321960.html
  • UniProt: P07824
    AC P07824; Q5BK93; DT 01-AUG-1988, integrated into UniProtKB/Swiss-Prot. ... RT "Functional consequences of the G235R mutation in liver arginase RT leading ...
    www.genome.jp/dbget-bin/www_bget?uniprot+P07824
  • ASL - argininosuccinate lyase
    Edit this page in WikiGenes - ASL. Argininosuccinate lyase: a new autoantigen in liver ... of the tagged site in FMMP95-1 identified a gene, designated ARG1, which ...
    www.ihop-net.org/UniPub/iHOP/gs/86560.html

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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