NEU1 P80L - 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 P80L

(NEU1 Pro80Leu)


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 (5 hits -- see all)
  • Mendelian Inheritance in Man Document Reader
    0002 SIALIDOSIS, TYPE II NEU1, LEU91ARG In a patient with type II ... at nucleotide 239 of the NEU1 gene, resulting in a pro80-to-leu (P80L) mutation, and a T-to-C transition ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+256550
  • 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
  • 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。 ... ( 2002 ) 確認されて、pro80-to-leu ( P80L ) 突然変異に帰着するNEU1遺伝子のヌクレオチド239のC-to-T ...
    gs3.fc2web.com/omim8/256550.htm
  • Prediction of the mechanism of action of omuralide (clasto ...
    BioInfoBank Library :: Prediction of the mechanism of action of omuralide (clasto-lactacystin beta-lactone) on human cathepsin A based on a structural model of the ...
    lib.bioinfo.pl/pmid:16870514
  • dbSNP121_Name dbSNP124_Name Chromosome Coordinate GenomeBuild
    P80L (NP_997379) 33. rs2074510. rs2074510. chr6. 30984013. 35. 0.167. 0.400 ... NEU1. NM_000434. 3UTR [333/209] 64. rs6915800. rs6915800. chr6. 31941639. 35 ...
    snpcenter.grcf.jhmi.edu/downloads/MHC_SNPlist_Annotation.xls

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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