ACHE H353N - GET-Evidence

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

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(ACHE His353Asn)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)



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

  • rs1799805
    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 ...
  • 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) ...
  • 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. ...
  • 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. ...
  • 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 ...
  • 43
    The Arabidopsis Thaliana Transcription Factors Database,Genomic Transcription Factors Information about Arabidopsis thaliana
  • 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 ...
  • PolyPhen: results for P22303 H353N
    ACETYLCHOLINESTERASE PRECURSOR (EC (ACHE). LENGTH: 614 AA. Prediction. This ... Mapping of the substitution site to known protein 3D structures ...
  • 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, ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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