SPINK5 D386N - GET-Evidence

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

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Curation:
Currentness:

(See the latest version)

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
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr5:147480080

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom A @ chr5:147480080

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr5:147480080

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr5:147480080

 

GS06985 - var-GS06985-1100-36-ASM
het A @ chr5:147460273

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr5:147460273

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr5:147460273

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr5:147460273

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr5:147460273

 

GS18517 - var-GS18517-1100-36-ASM
hom A @ chr5:147460273

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr5:147460273

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr5:147460273

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr5:147460273

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr5:147460273

 

GS18942 - var-GS18942-1100-36-ASM
hom A @ chr5:147460273

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr5:147460273

 

GS19017 - var-GS19017-1100-36-ASM
hom A @ chr5:147460273

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr5:147460273

 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr5:147460273

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr5:147460273

 

GS19239 - var-GS19239-1100-36-ASM
hom A @ chr5:147460273

 

GS19240 - var-GS19240-1100-36-ASM
hom A @ chr5:147460273

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr5:147460273

 

GS19703 - var-GS19703-1100-36-ASM
hom A @ chr5:147460273

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr5:147460273

 

GS21767 - var-GS21767-1100-36-ASM
het A @ chr5:147460273

 

NA19129

 

Deleted in this revision:

NA19129

 

Other external references
 

    dbSNP
  • rs2303064
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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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