ALS2 C156Y - GET-Evidence

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

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ALS2 C156Y

(ALS2 Cys156Tyr)

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

    Web search results (8 hits -- see all)
  • Supplementary Table xls.1
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  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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