LAMA4 R154W - GET-Evidence

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Curation:
Currentness:

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LAMA4 R154W

(LAMA4 Arg154Trp)


You are viewing an old version of this page that was saved on February 27, 2010 at 4:37am by Genome Importing Robot.

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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

  • A @ chr6:112522852: 4.7% (502/10758) in EVS
  • A @ chr6:112629544: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 4.7% (502/10758)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.999 (probably damaging)
    Web search results (4 hits -- see all)
  • LAMA4 Gene - GeneCards | LAMA4 Protein | LAMA4 Antibody
    LAMA4 Gene in genomic location: bands according to Ensembl, locations ... Sigma-Aldrich Antibodies for LAMA4. R&D Systems Antibodies for LAMA4 (Laminin alpha 4) ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=LAMA4
  • Laminin subunit alpha-4 precursor - Homo sapiens (Human)
    "The structural organisation of LAMA4, the gene encoding laminin alpha4. ... "Localization of the gene (LAMA4) to chromosome 6q21 and isolation of a partial ...
    www.uniprot.org/uniprot/Q16363
  • Mooney Lab - MutDB
    LAMA4. Number of Transcript Variants. 0. Visualize Pathways. Using web services (slow) ... DBSNP:rs11757455. 153. R W. NCBI. In dbsnp. None. 0.00. DBSNP:rs9400522. 275. A E. NCBI. In dbsnp. ...
    mutdb.org/cgi-bin/mutdb.pl?id=LAMA4&geneid=3910
  • UniProt: Q16363
    ... RT "The structural organisation of LAMA4, the gene encoding laminin RT alpha4. ... RT "Localization of the gene (LAMA4) to chromosome 6q21 and isolation ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q16363

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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