NEU1 W29X - GET-Evidence

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

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Curation:
Currentness:

NEU1 W29X

(NEU1 Trp29Stop)


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 (11 hits -- see all)
  • WikiGenes - NEU1 - sialidase 1 (lysosomal sialidase)
    The world's first wiki where authorship really matters. Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts.
    www.wikigenes.org/e/gene/e/4758.html
  • Prenatal diagnosis and fetal pathology in a Turkish family ...
    ... (neu1) gene causing a substitution of tryptophan at codon 29 by a termination codon (W29X) ... similar rates of neu1 mRNA expression were found in the fibroblasts of the fetus, ...
    www.ncbi.nlm.nih.gov/pubmed/11702224
  • Mendelian Inheritance in Man Document Reader
    0001 SIALIDOSIS, TYPE I NEU1, GLU377TER In 2 sibs with type I sialidosis, Bonten ... NEU1 gene, causing a substitution of tryptophan at codon 29 by a termination codon (W29X) ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+256550
  • Pediatrik Moleküler Patoloji ve Genetik
    Bozkır Çocuklarına bir Umut: Dr. Albert Eckstein :: Introduction to Clinical Molecular ... Copyleftcopy;Ł Eylül, 2003 Pediatrik Moleküler Patoloji and Genetik ...
    medicine.ankara.edu.tr/internal_medical/pediatrics/...
  • Prenatal diagnosis and fetal pathology in a Turkish family ...
    ... risk for sialidosis type II, an inherited autosomal recessive disorder caused by lysosomal alpha-N-acetyl-neuraminidase (sialidase, NEU1) deficiency. ...
    www.medscape.com/medline/abstract/11702224?prt=true
  • Decker, N (N)
    Decker, N (N) :: No evidence of vascular dopamine receptors in the rat portal vein. ... (neu1) gene causing a substitution of tryptophan at codon 29 by a termination codon (W29X) ...
    lib.bioinfo.pl/auid:919185
  • OMIM: 608272
    Neu1 -/- mice show features of human sialidosis and develop a ... NEU1 gene, causing a substitution of tryptophan at codon 29 by a termination codon (W29X) ...
    www.genome.jp/dbget-bin/www_bget?omim+608272
  • ノイラミニダーゼ不足
    ( 2002 ) NEU1遺伝子において3の新奇なミスセンス変異を確認しました。 Lysosomalノイラミニダーゼは、ベータ ... の同胞の両方がNEU1遺伝子のエクソン1にヌクレオチド87に新奇な同型接合のナンセンス点突然変異を持っていることを示しました。 終止コドン ( W29X ) によってコドン29で ...
    gs3.fc2web.com/omim8/256550.htm
  • [Dowling-Degos disease--an autosomal dominant genetic dermatosis]
    BioInfoBank Library :: [Dowling-Degos disease--an autosomal dominant ... neuraminidase (neu1) gene causing a substitution of tryptophan at codon 29 by a termination codon (W29X) ...
    lib.bioinfo.pl/pmid:3188604

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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