IDUA A361T - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

IDUA A361T

(IDUA Ala361Thr)


Short summary

 

Variant evidence
Computational 3

PolyPhen2: Benign, score 0.000
SIFT: Tolerated 0.48
GVGD: Class C0

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 @ chr4:996165: 17.1% (1837/10732) in EVS
  • A @ chr4:986164: 10.8% (8/74) in GET-Evidence
  • Frequency shown in summary reports: 17.1% (1837/10732)

Publications
 

Genomes
 

 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr4:996165

 

 

 

 

 

 

 

 

 

 

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr4:986165

 

GS18517 - var-GS18517-1100-36-ASM
hom A @ chr4:986165

 

GS19020 - var-GS19020-1100-36-ASM
het A @ chr4:986165

 

NA12878

 

NA19240

 

Other external references
 

    dbSNP
  • rs6831280
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (21 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. ... A361T (Thr361), and V454I (Ile454) was found in the higher IDUA activity ...
    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 ... exon 3, A314 from exon 7, A361T and T388 from exon 8, T410 and V454I ...
    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
  • Mucopolysaccharidosis I :: classification
    BioInfoBank Library :: Mucopolysaccharidosis I :: classification :: [Mucopolysaccharidosis type I in the ... in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie ...
    lib.bioinfo.pl/meid:81375
  • 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:678-8ct、F198L、L218V、A314;A361T、E404X、2537insC、T410、V454I.其中 ...
    lunwen.dic123.com/tag-major/遗传学
  • THE MOLECULAR BASIS OF MUCOPOLYSACCHARIDOSIS TYPE I IN TWO ...
    R105Q, A361T and V454I were found in 19% and always in the same ... iduronidase (IDUA) gene: correlation of. polymorphic DNA haplotype and IDUA activity in ...
    www.tm.mahidol.ac.th/seameo/2005_36_5/36-3659.pdf
  • MPS I
    A herança da doença é autossômica recessiva e afeta igualmente pessoas do sexo ... mãe de uma criança afetada são portadores assintomáticos da doença: são ...
    www.genzyme.com.br/thera/az/br_pdf_mps_mono.pdf
  • Human alpha-L-iduronidase (IDUA) gene: correlation of ...
    Human alpha-L-iduronidase (IDUA) gene: correlation of polymorphic DNA haplotype and IDUA activity in Chinese ... A361T (Thr361), and V454I (Ile454) was found in the higher IDUA ...
    molecularstation.com/research/human-alpha-l-iduronidase-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
  • Chinese Gene Variation Database
    p.A361T. IDUA activity. IDUA polymorphism. CGV05391005. p.Q33H. IDUA activity. IDUA polymorphism. CGV05391006. p.R105Q. IDUA activity. IDUA polymorphism. CGV05391007. p.V454I ...
    www.cgvdb.tw/gene.php?GSymbol=IDUA

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in