IDUA V454I - GET-Evidence

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

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Curation:
Currentness:

IDUA V454I

(IDUA Val454Ile)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(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

  • A @ chr4:996690: 11.0% (431/3924) in EVS
  • Frequency shown in summary reports: 11.0% (431/3924)

Publications
 

Genomes
 

 

 

 

 

 

 

 

 

 

 

Other external references
 

    dbSNP
  • rs73066479
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.003 (benign)
    Web search results (10 hits -- see all)
  • Human alpha-L-iduronidase (IDUA) gene: correlation of ...
    Leukocytes were isolated from the above 85 samples, and their IDUA activities were determined. ... and V454I (Ile454) was found in the higher IDUA activity group. ...
    www.ncbi.nlm.nih.gov/pubmed/9536518
  • Human alpha-L-iduronidase (IDUA) gene: apparent recombination ...
    Human alpha-L-iduronidase (IDUA) gene: apparent recombination in intron 2 by haplotype analysis in a ... and T388 from exon 8, T410 and V454I from exon 9, and R489 from exon ...
    www.ncbi.nlm.nih.gov/pubmed/9700243
  • IDUA - iduronidase, alpha-L-
    An 86-bp VNTR within IDUA is the basis of the D4S111 polymorphic locus. ... Unmodified Idua+/+ (wild type) bone marrow was transplanted for comparison. ...
    www.ihop-net.org/UniPub/iHOP/gi/89319.html
  • THE MOLECULAR BASIS OF MUCOPOLYSACCHARIDOSIS TYPE I IN TWO ...
    V454I, have been identified as being nonpatho- genic mutations, ... iduronidase (IDUA) gene: correlation of. polymorphic DNA haplotype and IDUA activity in ...
    www.tm.mahidol.ac.th/seameo/2005_36_5/36-3659.pdf
  • 遗传学 -论文查询-毕业论文
    中国人粘多糖贮积症I型IDUA基因突变的研究. 该文采用PCR-SSCP、测序等技术,检测了40例初步诊断为粘多糖果贮积症I型患者的IDUA基因突变,发现了9种突变型:678-8c ... 2537insC、T410、V454I.其中678-8ct、F198L、L218V、A314为我们首次发现和报道,另外,E404X国外已 ...
    lunwen.dic123.com/tag-major/遗传学
  • Human alpha-L-iduronidase (IDUA) gene: correlation of ...
    Leukocytes were isolated from the above 85 samples, and their IDUA activities were determined. ... and V454I (Ile454) was found in the higher IDUA activity group. ...
    molecularstation.com/research/human-alpha-l-iduronidase-idua...
  • Chinese Gene Variation Database
    IDUA activity. IDUA polymorphism. CGV05391007. p.V454I. IDUA activity ... IDUA activity. IDUA polymorphism. CGV05391009. p.V454I. IDUA polymorphism. CGV05391010 ...
    www.cgvdb.tw/gene.php?GSymbol=IDUA
  • An 86-bp VNTR within IDUA is the basis of the D4S111 ...
    BioInfoBank Library :: An 86-bp VNTR within IDUA is the basis of the D4S111 polymorphic locus. The gene for achondroplasia maps to the telomeric region of chromosome ...
    lib.bioinfo.pl/pmid:1478658
  • 中国人粘多糖贮积症I型IDUA基因突变的研究-曾瑞萍-毕业论文
    粘多糖贮积症I型;α_L_艾杜糖苷酸酶;IDUA基因;基因突变;体外定点突变技术 [时间]:20020508[页数]:96页[点击]:20042[分类号]:R394;Q78[语种] ...IDUA基因突变,发现了9种突变型:678-8ct、F198L、L218V、A314;A361T、E404X、2537insC、T410、V454I.其中 ...
    lunwen.dic123.com/detail-4797

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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