NEU1 W240R - GET-Evidence

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

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Curation:
Currentness:

NEU1 W240R

(NEU1 Trp240Arg)


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: 0.999 (probably damaging)
    Web search results (4 hits -- see all)
  • Mendelian Inheritance in Man Document Reader
    0002 SIALIDOSIS, TYPE II NEU1, LEU91ARG In a patient with type II sialidosis, Bonten et ... to-arg (W240R) mutation (256550.0011). .0011 SIALIDOSIS, TYPE II NEU1, TRP240ARG See ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+256550
  • OMIM: 608272
    Neu1 -/- mice show features of human sialidosis and develop a ... to-arg (W240R) mutation (608272.0011). . 0011 SIALIDOSIS, TYPE II NEU1, TRP240ARG See ...
    www.genome.jp/dbget-bin/www_bget?omim+608272
  • ノイラミニダーゼ不足
    クライン、及び、クライン ( 1982年 ) 、及び、Womack、及び、デビッド ( 1982年 ) は、そのD終りでマウスNeu1座のちょうどそのほぼH2をマップしました。 ... 帰着するNEU1遺伝子のヌクレオチド239のC-to-T過渡期、及び、trp240-to-arg ( W240R ) 突然変異 ...
    gs3.fc2web.com/omim8/256550.htm
  • Prediction of the mechanism of action of omuralide (clasto ...
    The W240R substitution was deduced to influence the molecular surface structure of a ... glycosidases, i.e., neuraminidase 1 (NEU1) and beta-galactosidase (GLB), but also ...
    lib.bioinfo.pl/pmid:16870514

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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