ACHE H353N - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

ACHE H353N

(ACHE His353Asn)


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 @ chr7:100490797: 3.4% (368/10758) in EVS
  • T @ chr7:100328732: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 3.4% (368/10758)

Publications
 

Genomes
 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr7:100490797

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom T @ chr7:100490797

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr7:100490797

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr7:100328733

 

GS19670 - var-GS19670-1100-36-ASM
het T @ chr7:100328733

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr7:100328733

 

Other external references
 

    dbSNP
  • rs1799805
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (12 hits -- see all)
  • Acetylcholinesterase precursor - Homo sapiens (Human)
    ACHE is responsible for the Yt blood group system [MIM:112100] ... Also known as: ACHE-R; readthrough; The sequence of this isoform differs from the ...
    www.uniprot.org/uniprot/P22303
  • Mooney Lab - MutDB
    Gene ID: ACHE. Navigation: Non-Synonymous SNPs. Synonymous SNPs. Intronic SNPs. Untranslated ... ACHE. Number of Transcript Variants. 1. Visualize Pathways. Using web services (slow) ...
    www.mutdb.org/cgi-bin/mutdb.pl?id=ACHE&geneid=43
  • Online Supplement A Polymorphism in the Protease-like Domain ...
    Cardiovascular Research Institute, UCSF, 513 Parnassus Ave, San Francisco, CA ... rs1799805 ACHE 0.0181. rs17744917 CDH13. 0.0011. rs12626485 ADAMTS5. 0. ...
    atvb.ahajournals.org/cgi/data/ATVBAHA.107.141291/DC1/1
  • DOI: 10.1161/ATVBAHA.107.141291 published online Jun 14, 2007 ...
    Arteriosclerosis, Thrombosis, and Vascular Biology is published by the American Heart ... rs1799805 ACHE 0.0181. rs17744917 CDH13. 0.0011. rs12626485 ADAMTS5. 0. ...
    atvb.ahajournals.org/cgi/reprint/ATVBAHA.107.141291v1.pdf
  • Search Medical and Societal References - esrnexus
    ESRNexus is a publicly searchable online medical and societal reference library that is ... to both mouse and Electrophorus AChE reveals independent contributions of individual ...
    www.esrnexus.com/advsearch.aspx?txtAuthor=Raushel
  • 43
    The Arabidopsis Thaliana Transcription Factors Database,Genomic Transcription Factors Information about Arabidopsis thaliana
    okcam.cbi.pku.edu.cn/entry-info.php?id=43
  • ACHE Gene - GeneCards | ACES Protein | ACES Antibody
    encoded by the single ACHE gene, and the structural diversity in the gene ... The high enzymatic rate of AChE means that it effectively terminates signal ...
    genecards.org/cgi-bin/carddisp.pl?gene=ACHE&...&snp=70
  • PolyPhen: results for P22303 H353N
    ACETYLCHOLINESTERASE PRECURSOR (EC 3.1.1.7) (ACHE). LENGTH: 614 AA. Prediction. This ... Mapping of the substitution site to known protein 3D structures ...
    tux.embl-heidelberg.de/ramensky/data/html/SNP000000079.html
  • dbRBC - Blood Group Antigen Gene Mutation Database
    HLA, MHC, Human Leukocyte antigen, Major Histocompatibility Complex, database, Allele, Sequence, Antropology, Disease Association, HCT, Hematopoetic Stem Cell, ...
    ncbi.nlm.nih.gov/projects/gv/mhc/xslcgi.cgi?cmd=bgmut/...
  • UniProt: P22303
    ... RT "Increased expression of intranuclear AChE involved in apoptosis of RT SK-N-SH cells. ... codon 322 in the human acetylcholinesterase (ACHE) gene RT accounts for YT blood ...
    www.genome.jp/dbget-bin/www_bget?uniprot+P22303

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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