ARSB V376M - GET-Evidence

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

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Curation:
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ARSB V376M

(ARSB Val376Met)


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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

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr5:78181423

 

Added in this revision:

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het T @ chr5:78181423

 

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

 

hu6E4515 - PGP15 (hu6E4515) build 37, from CGI var (software ver 1.12.0.47), CGI sample GS000005532
het T @ chr5:78181423

 

huA90CE6 - PGP16 (huA90CE6) build 37, from CGI var (software ver 2.0.2.11), CGI sample GS000006909
het T @ chr5:78181423

 

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

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom T @ chr5:78181423

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr5:78181423

 

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

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr5:78217179

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr5:78217179

 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr5:78217179

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr5:78217179

 

GS21767 - var-GS21767-1100-36-ASM
hom T @ chr5:78217179

 

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

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