SPINK5 D386N - GET-Evidence

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

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Curation:
Currentness:

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SPINK5 D386N

(SPINK5 Asp386Asn)


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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 @ chr5:147480080: 22.6% (2264/10002) in EVS
  • A @ chr5:147460272: 30.5% (39/128) in GET-Evidence
  • Frequency shown in summary reports: 22.6% (2264/10002)

Publications
 

Genomes
 

NA18507

 

NA18517

 

NA18555

 

NA18956

 

NA19129

 

NA19240

 

snp-1

 

Added in this revision:

snp-26

 

snp-3

 

Other external references
 

    Web search results (6 hits -- see all)
  • doi:10.1016/S0022-2836(03)00245-6
    Keywords: LEKTI; SPINK5; NMR structure; proteinase inhibitor; Kazal ... performance liquid chromatography; SPINK5, serine protease inhibitor, ...
    www.bp.uni-bayreuth.de/Publications/Papers/2003/2003_3.pdf
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k₧kƒkákíkókúkñkÑkªkºk¿kk¬k½k ... 0_-;_-"ú"* "-"_-;_-@0_-;\-* #,##0_-;_-* "-"_-;8_-"ú"* #,##0.00_-;\-"ú" ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • CONVENTION D'AUTUNNO DEI RICERCATORI ITALIANI PER LA FIBROSI ...
    Azienda Ospedaliera di Verona. Verona 18 - 19 novembre 2005. 3. a ... Il polimorfi smo D386N nel. gene SPINK5 (Serin Protease Inhibitor Type 5) è. stato invece ...
    fibrosicisticaricerca.it/.../o/conventionbrochurepdf2005.pdf
  • CONVENTION D'AUTUNNO DEI RICERCATORI IN FIBROSI CISTICA
    Italian Cystic Fibrosis Research Foundation. 6. a. CONVENTION D'AUTUNNO ... Verona, 14-15 Novembre 2008. Fondazione per la ricerca sulla fi brosi cistica. Ospedale ...
    fibrosicisticaricerca.it/.../o/convention2008.p0001_low1.pdf

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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