STAMBPL1 E204K - GET-Evidence

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

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Curation:
Currentness:

STAMBPL1 E204K

(STAMBPL1 Glu204Lys)


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 @ chr10:90673047: 3.1% (333/10758) in EVS
  • A @ chr10:90663026: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 3.1% (333/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr10:90673047

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr10:90673047

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr10:90673047

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr10:90663027

 

GS19735 - var-GS19735-1100-36-ASM
het A @ chr10:90663027

 

Other external references
 

    dbSNP
  • rs34270879
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.97 (probably damaging)
    Web search results (3 hits -- see all)
  • STAMBPL1 Gene - GeneCards | STALP Protein | STALP Antibody
    STAMBPL1 Gene in genomic location: bands according to Ensembl, ... for STAMBPL1 gene (According to 1UniProtKB, and/or Ensembl, Phosphorylation sites ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=STAMBPL1
  • AMSH-like protease - Homo sapiens (Human)
    ... OS=Homo sapiens GN=STAMBPL1 PE=1 SV=2 MDQPFTVNSLKKLAAMPDHTDVSLSPEERVRALSKLGCNITISEDITPRRYFRSGVEMER ... STAMBPL1. Synonyms: AMSHLP, KIAA1373. Organism. Homo sapiens (Human) ...
    www.uniprot.org/uniprot/Q96FJ0
  • UniProt: Q96FJ0
    DT 23-NOV-2004, sequence version 2. DT 20-APR-2010, entry version 64. DE RecName: ... protein-like 1; GN Name=STAMBPL1; Synonyms=AMSHLP, KIAA1373; OS Homo ...
    www.genome.jp/dbget-bin/www_bget?uniprot+Q96FJ0

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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