SERPINA10 G271S - GET-Evidence

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

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Curation:
Currentness:

SERPINA10 G271S

(SERPINA10 Gly271Ser)


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 @ chr14:94754804: 3.6% (389/10758) in EVS
  • T @ chr14:93824556: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 3.6% (389/10758)

Publications
 

Genomes
 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr14:94754804

 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr14:93824557

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr14:93824557

 

GS19017 - var-GS19017-1100-36-ASM
het T @ chr14:93824557

 

GS19239 - var-GS19239-1100-36-ASM
het T @ chr14:93824557

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr14:93824557

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr14:93824557

 

Other external references
 

    dbSNP
  • rs2232708
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.003 (benign)
    Web search results (9 hits -- see all)
  • SERPINA10 Gene - GeneCards | ZPI Protein | ZPI Antibody
    SERPINA10 Gene in genomic location: bands according to Ensembl, ... Enzo Life Sciences assays for SERPINA10. Protein Domains/ Families. for SERPINA10 gene ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=SERPINA10
  • Online Supplement
    rs2232710 SERPINA10. Chr20:3630126. SN. rs2232708 SERPINA10. rs3746638 SN ... SERPINA10. rs2272296 SOAT2. rs1885137 SERPINA11. rs2272296 SOAT2. rs4934 SERPINA3 ...
    atvb.ahajournals.org/cgi/data/.../DC1/1
  • DOI: 10.1161/01.ATV.0000247248.76409.8b 28, 2006; 2006;26 ...
    rs2232710 SERPINA10. Chr20:3630126. SN. rs2232708 SERPINA10. rs3746638 SN ... SERPINA10. rs2272296 SOAT2. rs1885137 SERPINA11. rs2272296 SOAT2. rs4934 SERPINA3 ...
    atvb.ahajournals.org/cgi/reprint/26/12/2763.pdf
  • Protein Z-dependent protease inhibitor precursor - Homo ...
    SERPINA10. Synonyms: ZPI. ORF Names: UNQ707/PRO1358. Organism. Homo ... G S: dbSNP rs2232708. Ref.4. VAR_038834. Natural variant. 384. 1. Q P. VAR_038835. Natural ...
    www.uniprot.org/uniprot/Q9UK55
  • Blood -- A nonsense polymorphism in the protein Z-dependent ...
    Prepublished online as a Blood First Edition Paper on March 9, 2006; DOI 10.1182 ... of serin protease inhibitors (SERPINA10) with tyrosine-serine as the ...
    bloodjournal.hematologylibrary.org/cgi/content/full/108/...
  • Microsoft Word - $ASQ2005-08-3249_accepted
    superfamily of serin protease inhibitors (SERPINA10) with tyrosine-serine as the ... SNPs data base (ID: rs2232708). Additionally, we sequenced all coding ...
    bloodjournal.hematologylibrary.org/.../2005-08-3249v1.pdf
  • UniProt: Q9UK55
    AC Q9UK55; A5Z2A5; Q6UWX9; Q86U20; DT 24-JAN-2001, integrated into ... DE Flags: Precursor; GN Name=SERPINA10; Synonyms=ZPI; ORFNames=UNQ707/PRO1358; OS Homo ...
    www.genome.jp/dbget-bin/www_bget?uniprot+Q9UK55

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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