NEU1 R225P - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

NEU1 R225P

(NEU1 Arg225Pro)


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
 

    PolyPhen-2
  • Score: 0.697 (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 ...
    www.ncbi.nlm.nih.gov/pubmed/14695530
  • 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 ...
    uptodate.com/patients/content/abstract.do?...&refNum=53
  • PubMed: 14695530
    2004 Jan;23(1):32-9. Abstract: Sialidosis is an autosomal recessive disease ... sialidosis patients was screened for mutations within the sialidase gene NEU1. ...
    www.genome.jp/dbget-bin/www_bget?pubmed+14695530
  • 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 ...
    www.genome.jp/dbget-bin/www_bget?omim+608272
  • Search Medical and Societal References - esrnexus
    ESRNexus is a publicly searchable online medical and societal reference library that is ... binding, while the p.A298V and p.R225P mutations appear to impair the folding of the ...
    www.esrnexus.com/advsearch.aspx?txtAuthor=Rupar

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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