ARG1 W122X - GET-Evidence

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

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ARG1 W122X

(ARG1 Trp122Stop)

Short summary


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


Insufficiently evaluated pathogenic

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

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



Other external references

  • Argininemia
    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.
  • 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, ...
  • 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 ...
  • 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. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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