ARG1 I11T - GET-Evidence

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

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Curation:
Currentness:

ARG1 I11T

(ARG1 Ile11Thr)


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: 0.944 (probably damaging)
    Web search results (2 hits -- see all)
  • OMIM: 608313
    Arg1 knockout mice died by 14 days of age from hyperammonenemia, while Arg2 ... in exon 1 of the ARG1 gene, resulting in an ile11-to-thr (I11T) substitution. ...
    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 ... The mutant arginase protein with I11T was expressed in Escherichia coli. ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+207800

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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