ARSB V376M - GET-Evidence

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Curation:
Currentness:

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ARSB V376M

(ARSB Val376Met)


You are viewing an old version of this page that was saved on December 5, 2010 at 6:53pm by Genome Importing Robot.

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

  • T @ chr5:78181423: 13.6% (1460/10758) in EVS
  • T @ chr5:78217178: 12.7% (16/126) in GET-Evidence
  • Frequency shown in summary reports: 13.6% (1460/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom T @ chr5:78181423

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr5:78181423

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr5:78181423

 

Added in this revision:

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr5:78181423

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr5:78181423

 

NA12878

 

snp-18

 

snp-27

 

Other external references
 

    dbSNP
  • rs17220759
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.001 (benign)
    Web search results (12 hits -- see all)
  • Mutational analysis of mucopolysaccharidosis type VI patients ...
    Each individual exon of the ARSB gene was amplified by PCR and ... ovary cells and analyzed for residual ARSB activity and mutant ARSB protein. ...
    www.ncbi.nlm.nih.gov/pubmed/14974081
  • Identification of the molecular defects in Spanish and ...
    We identified all the ARSB mutant alleles, nine of them. novel, in 12 Spanish and 4 ... ARSB activity in the patients' leukocytes (L) or skin fibroblasts (F) referred to the mean ...
    www.ub.es/geneticaclasses/brucormand/pdfs/GarridoMGM2007.pdf
  • Karageorgos, L (L)
    Karageorgos, L (L) :: Characterization of HIV replication complexes early after cell-to-cell infection. ... cells and analyzed for residual ARSB activity and mutant ARSB protein. ...
    lib.bioinfo.pl/auid:2053292
  • PubMed: 14974081
    Each individual exon of the ARSB gene was amplified by PCR and ... ovary cells and analyzed for residual ARSB activity and mutant ARSB protein. ...
    www.genome.jp/dbget-bin/www_bget?pubmed+14974081
  • Mutational analysis of mucopolysaccharidosis type VI patients ...
    Each individual exon of the ARSB gene was amplified by PCR and ... [p.V358M] and c.1126G>A [p.V376M] were identified in some of the patients, along ...
    www.curehunter.com/public/pubmed17161971.do
  • Mutational analysis of mucopolysaccharidosis type VI patients ...
    Mucopolysaccharidosis type VI (MPS VI), or Maroteaux-Lamy syndrome, is a lysosomal storage disorder caused by a deficiency of N-acetylgalactosamine-4-sulfatase (ARSB)
    www.medscape.com/medline/abstract/14974081
  • Mucopolysaccharidosis type VI: Identification of novel ...
    Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome, MPS VI) is an autosomal recessive disorder caused by deficiency of N-acetylgalactosamine-4-sulphatase (ARSB) ...
    www.medscape.com/medline/abstract/16435196
  • Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six ...
    BioInfoBank Library :: Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes. Targeted ...
    lib.bioinfo.pl/pmid:8116615

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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