NEU1 A298V - GET-Evidence

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

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NEU1 A298V

(NEU1 Ala298Val)

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

  • Score: 0.27 (possibly damaging)
    Web search results (5 hits -- see all)
  • Five novel mutations in the lysosomal sialidase gene (NEU1 ...
    ... patients was screened for mutations within the sialidase gene NEU1. ... substrate binding, while the p.A298V and p.R225P mutations appear to impair the folding of the sialidase ...
  • Medline ® Abstract for Reference of 'Postnatal care of ...
    UpToDate, electronic clinical resource tool for physicians and patients that provides information on Adult Primary Care and Internal Medicine, Allergy and ...
  • PubMed: 14695530
    2004 Jan;23(1):32-9. Abstract: Sialidosis is an autosomal recessive disease resulting ... the p.A298V and p.R225P mutations appear to impair the folding of the sialidase enzyme. ...
  • OMIM: 608272
    ... 1986) provided evidence that the human NEU1 gene is located inside the region of ... and identified 3 mutations in the NEU1 gene: 1 frameshift insertion and 2 ...
  • Search Medical and Societal References - esrnexus
    ESRNexus is a publicly searchable online medical and societal reference library that is ... mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and ...

Other in silico analyses

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 4

Edit history

Gene search

"GENE" or "GENE A123C":

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