ARSA R496H - GET-Evidence

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

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Curation:
Currentness:

ARSA R496H

(ARSA Arg496His)


Short summary

 

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

Impact

Insufficiently evaluated benign

(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 @ chr22:51063610: 5.5% (583/10626) in EVS
  • T @ chr22:49410475: 4.9% (6/122) in GET-Evidence
  • Frequency shown in summary reports: 5.5% (583/10626)

Publications
 

Ricketts MH, Poretz RD, Manowitz P. The R496H mutation of arylsulfatase A does not cause metachromatic leukodystrophy. Hum Mutat. 1998;12(4):238-9. PubMed PMID: 9744473.

 

Genomes
 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het T @ chr22:51063610

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr22:51063610

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr22:51063610

 

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr22:49410476

 

GS19239 - var-GS19239-1100-36-ASM
het T @ chr22:49410476

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr22:49410476

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr22:49410476

 

GS19701 - var-GS19701-1100-36-ASM
het T @ chr22:49410476

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr22:49410476

 

Other external references
 

    dbSNP
  • rs6151428
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (14 hits -- see all)
  • The R496H mutation of arylsulfatase A does not cause ...
    The R496H mutation of arylsulfatase A does not cause metachromatic leukodystrophy. ... Recently, the R496H mutation of ARSA was proposed to be a cause of ...
    www.ncbi.nlm.nih.gov/pubmed/9744473
  • HMDB: Showing 3-O-Sulfogalactosylceramide (d18:1/24:0) (HMDB00024)
    ARSA. Enzyme 4 HGNC ID. HGNC:713. Enzyme 4 Chromosome Location. 22. Enzyme ... Ricketts MH, Poretz RD, Manowitz P: The R496H mutation of arylsulfatase A does not cause ...
    www.hmdb.ca/metabolites/HMDB00024
  • HMDB: Showing Sulfate (HMDB01448)
    ARSA. Enzyme 4 HGNC ID. HGNC:713. Enzyme 4 Chromosome Location. 22. Enzyme ... Ricketts MH, Poretz RD, Manowitz P: The R496H mutation of arylsulfatase A does not cause ...
    hmdb.ca/scripts/show_card.cgi?METABOCARD=HMDB01448
  • OMIM: 607574
    The quaternary structure of ARSA is highly pH dependent and oscillates between 2 ... The ARSA enzyme activity in subjects with or without R496H was found to be normal. ...
    www.genome.jp/dbget-bin/www_bget?omim+607574
  • Mendelian Inheritance in Man Document Reader
    Clinically healthy persons with ARSA levels in the range of MLD patients have been found ... The ARSA enzyme activity in subjects with or without R496H was found to be normal. ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+250100
  • EC 3.1.6.8 - cerebroside-sulfatase
    R288H, N350S and R496H are sequence alterations found in a patient with metachromatic leukodystrophy. ... ARSA-transduced cells efficiently repopulate the hematopoietic organs ...
    brenda-enzymes.org/php/...&OrganismID=247&ShowAll=True
  • (raw format)
    ... RT "High residual arylsulfatase A (ARSA) activity in a patient with ... R.D., Manowitz P.; RT "The R496H mutation of arylsulfatase A does not cause metachromatic ...
    www.uniprot.org/uniprot/P15289.txt
  • Causes Of Leukodystrophy - a comprehensive view - Wellsphere
    The R496H mutation of arylsulfatase A does not cause metachromatic ... A (ARSA) enzyme activity causes metachromatic leukodystrophy (MLD). A number of ARSA gene mutations ...
    www.wellsphere.com/wellpage/causes-of-leukodystrophy
  • Metachromatic Leukodystrophy
    Metachromatic Leukodystrophy Fact Sheet in Ukrainian by IBIS ... На 1.05.2002 року описана 91 мутація в гені ARSA, що визначає розвиток метахроматичної лейкодистрофії. ...
    www.ibis-birthdefects.org/start/ukrainian/uleukody.htm
  • The Israeli National Genetic Database
    GBA: [N370S]; [L444P]; [ 84GG]; [IVS2+1G<A]; [1297G-T];[R496H] ... ARSA: [P377L] Mucolipidosis type 4 (ML4) MCOLN1: [IVS3-2 A-G]; [del ex1-7] Nemaline ...
    goldenhelix.org/israeli/...+Institute+of+Human+Genetics.html

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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