NEU1 W240R - GET-Evidence

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

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NEU1 W240R

(NEU1 Trp240Arg)

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: 0.999 (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 ...
  • 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 ...
  • 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 ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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