ARG1 W122X - GET-Evidence

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

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Curation:
Currentness:

ARG1 W122X

(ARG1 Trp122Stop)


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
    Web search results (4 hits -- see all)
  • WikiGenes - ARG1 - arginase, 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/383.html
  • OMIM: 608313
    The isoform encoded by ARG1, referred to as the liver, or A-I, isoform, ... Arg1/Arg2 double-knockout mice exhibited the phenotype of the Arg1 knockout mice, ...
    www.genome.jp/dbget-bin/www_bget?omim+608313
  • Mendelian Inheritance in Man Document Reader
    The ARG1 gene is 11.5 kb long and is split into 8 exons (Takiguchi et ... previously analyzed, such as G235R and W122X (207800.0005), had less than 1% of ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+207800
  • ARG1 - arginase, liver
    In humans, ARG1 is stored in inactive form within granules of ... coli indicated that the mutant arginase of W122X did not remain a stable product. ...
    www.ihop-net.org/UniPub/iHOP/gi/86511.html

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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