ABP1 S332F - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

ABP1 S332F

(ABP1 Ser332Phe)


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 @ chr7:150554553: 8.1% (870/10748) in EVS
  • T @ chr7:150185485: 9.4% (12/128) in GET-Evidence
  • Frequency shown in summary reports: 8.1% (870/10748)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr7:150554553

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr7:150554553

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr7:150554553

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr7:150185486

 

GS18502 - var-GS18502-1100-36-ASM
het T @ chr7:150185486

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr7:150185486

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr7:150185486

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr7:150185486

 

GS19238 - var-GS19238-1100-36-ASM
het T @ chr7:150185486

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr7:150185486

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr7:150185486

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr7:150185486

 

Other external references
 

    dbSNP
  • rs1049742
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.995 (probably damaging)
    Web search results (57 hits -- see all)
  • ABP1 Gene - GeneCards | ABP1 Protein | ABP1 Antibody
    EntrezGene summary for ABP1: This gene encodes a membrane glycoprotein that is expressed ... ABP1 Gene in genomic location: bands according to Ensembl, locations ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=ABP1
  • Histamine pharmacogenomics.
    For ABP1 the most relevant polymorphisms are rs10156191 Thr16Met, rs1049742 Ser332Phe, and particularly ... In addition the ABP1 polymorphisms rs45558339 Ile479Met and ...
    www.ncbi.nlm.nih.gov/pubmed/19450133
  • Amiloride-sensitive amine oxidase [copper-containing ...
    Enter your search text here. Enter your search query here. Reset button ... ABP1. Synonyms: AOC1, DAO1. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ...
    www.uniprot.org/uniprot/P19801
  • AceView: Gene:ABP1, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=ABP1
  • HMDB00073.txt
    Dopamine is synthesized in the body (mainly by nervous tissue and adrenal glands) ... Metabolic_Enzyme_9_Gene_Name: ABP1 # Metabolic_Enzyme_9_Protein_Sequence: > ...
    wishart.biology.ualberta.ca/polysearch/.../HMDB00073.txt
  • /~aguo/www_hmdb_ca/HMDB/download/metabocards_concat.txt
    The enzyme, carnosinase, splits anserine into b-alanine and 1-MHis. ... KAO # Metabolic_Enzyme_4_Gene_Name: ABP1 # Metabolic_Enzyme_4_Protein_Sequence: ...
    redpoll.pharmacy.ualberta.ca/.../metabocards_concat.txt
  • HMDB00303.txt
    Biosynthesis generally proceeds from the amino acid tryptophan, with ... 7q34-q36 # Metabolic_Enzyme_7_SNPs: rs1049742; rs10156191; rs1049793; rs6943147; ...
    wishart.biology.ualberta.ca/polysearch/.../HMDB00303.txt
  • HMDB00164.txt
    ... Metabolic_Enzyme_5_Gene_Name: ABP1 # Metabolic_Enzyme_5_Protein_Sequence: ... 7q34-q36 # Metabolic_Enzyme_5_SNPs: rs1049742; rs10156191; rs1049793; rs6943147; ...
    wks16338.biology.ualberta.ca/~dean/polyomx/.../HMDB00164.txt
  • Type I- 98%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... CAMK (0.911) CAMKL (0.831) CAMK2 (0.791) ABP1 P19801 S332F 332 VAR_025079 AGC (0. ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeI-_98.txt
  • Type III 95%
    ... Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... seq Added kinase gruop(s) Added kinase family(s) Removed kinase gruop ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeIII_95.txt

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in