ALS2 C156Y - GET-Evidence

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

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Curation:
Currentness:

ALS2 C156Y

(ALS2 Cys156Tyr)


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
 

    Web search results (8 hits -- see all)
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k₧kƒkákíkókúkñkÑkªkºk¿kk¬k½k ... 0_-;_-"ú"* "-"_-;_-@0_-;\-* #,##0_-;_-* "-"_-;8_-"ú"* #,##0.00_-;\-"ú" ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • ALS2/Alsin Knockout Mice and Motor Neuron Diseases
    only mutations in the gene ALS2 , linked to chromosome. 2q33, have ... ALS2 C156Y or G540E knock-in mice would be helpful to. address this question. Despite the ...
    content.karger.com/ProdukteDB/produkte.asp?...
  • CiteULike: Cross-species characterization of the ALS2 gene ...
    Cross-species characterization of the ALS2 gene and analysis of its ... Mutations in the ALS2 gene, which encodes alsin, cause autosomal recessive ...
    www.citeulike.org/user/mnqf3pkg/article/2947257
  • CiteULike: Molecular and cellular function of ALS2/alsin ...
    Molecular and cellular function of ALS2/alsin: Implication of membrane dynamics in ... ALS2 is a causative gene for a juvenile autosomal recessive form of ...
    www.citeulike.org/user/mnqf3pkg/article/2545220
  • OMIM: 606352
    The authors concluded that variants of the ALS2 gene are not a common cause of a predominantly early-onset, ... ALS2 gene, resulting in a cys156-to-tyr (C156Y) substitution in a ...
    www.genome.jp/dbget-bin/www_bget?omim+606352
  • Regulation of endosomal motility and degradation by ...
    ... juvenile onset recessive familial amyotrophic lateral sclerosis (ALS2) ... The generation of ALS2-/- mice was described previously 23. The mice were housed ...
    www.molecularbrain.com/content/xml/1756-6606-2-23.xml

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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