NEU1 G243R - GET-Evidence

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

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Curation:
Currentness:

NEU1 G243R

(NEU1 Gly243Arg)


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: 0.49 (possibly damaging)
    Web search results (12 hits -- see all)
  • 本文/原著 たたの P103~112
    complex among neuraminidase-1 (NEU1) and protective protein/cathepsin A (PPCA) is ... mutation and the V217M/G243R substitutions in the NEU1 might hardly have effects ...
    medical.med.tokushima-u.ac.jp/jmi/.../pdf/v53_n1-2_p103.pdf
  • Elimination of abnormal sialylglycoproteins in fibroblasts ...
    ... for identifying the abnormal sialylglycoconjugates found in NEU1-deficiency fibroblasts (Kotani et al., 2004) ... (F319; genotype, V217M/G243R in the NEU1 gene) (Naganawa et al. ...
    glycob.oxfordjournals.org/cgi/content/full/16/4/271
  • Mendelian Inheritance in Man Document Reader
    0001 SIALIDOSIS, TYPE I NEU1, GLU377TER In 2 sibs with type I sialidosis, Bonten ... NEU1 gene, resulting in amino acid alterations V217M and G243R ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+256550
  • Elastogenesis in cultured dermal fibroblasts from patients ...
    The human GLB1 gene encodes a lysosomal beta-galactosidase (beta-Gal) and an elastin-binding protein (EBP) ... and the V217M/G243R substitutions in the NEU1 might hardly have ...
    www.medscape.com/medline/abstract/16538002?prt=true
  • Kuwahara, J (Jun)
    Kuwahara, J (Jun) :: Apoptosis-inducing activity of synthetic intermediates of halichlorine. ... mutation and the V217M/G243R substitutions in the NEU1 might hardly have effects ...
    lib.bioinfo.pl/auid:1457022
  • Science Links Japan | Elastogenesis in cultured dermal ...
    TOP > J-EAST > List of Journal Titles (J) > J Med Invest(2006) ... splicing mutation or V217M/G243R substitution of and NEU1 were seldom to affect elastic fiber formation of ...
    sciencelinks.jp/j-east/article/.../000020061406A0199833.php
  • OMIM: 608272
    Neu1 -/- mice show features of human sialidosis and develop a pronounced, age-dependent ... NEU1 gene, resulting in amino acid alterations V217M and G243R ...
    www.genome.jp/dbget-bin/www_bget?omim+608272
  • NewsRx Search Results on Sialidosis
    World's Largest Source of Health Information. Health, Medical, Biotech, Legal, Business & Clinical Research News for Professionals and Knowledgeable Consumers.
    newsrx.com/search_results.php?search_term=Sialidosis&...
  • Elimination of abnormal sialylglycoproteins in fibroblasts ...
    parallel with the restoration of the intracellular NEU1 activ ... dosis (F319; genotype, V217M/G243R in the NEU1 gene) (Naganawa et al., 2000; Itoh et al. ...
    glycob.oxfordjournals.org/cgi/reprint/16/4/271.pdf
  • 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。 ... ために:アミノ酸変化V217M、及び、G243R ( 256550.0008 ) に帰着する、NEU1遺伝子における649G-A、及び、 ...
    gs3.fc2web.com/omim8/256550.htm

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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