ABP1 S332F - GET-Evidence

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

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ABP1 S332F

(ABP1 Ser332Phe)

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 @ chr7:150554553: 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)



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

  • rs1049742
  • 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 ...
  • Histamine pharmacogenomics.
    For ABP1 the most relevant polymorphisms are rs10156191 Thr16Met, rs1049742 Ser332Phe, and particularly ... In addition the ABP1 polymorphisms rs45558339 Ile479Met and ...
  • 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 ...
  • 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 ...
  • 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: > ...
  • /~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: ...
  • HMDB00303.txt
    Biosynthesis generally proceeds from the amino acid tryptophan, with ... 7q34-q36 # Metabolic_Enzyme_7_SNPs: rs1049742; rs10156191; rs1049793; rs6943147; ...
  • HMDB00164.txt
    ... Metabolic_Enzyme_5_Gene_Name: ABP1 # Metabolic_Enzyme_5_Protein_Sequence: ... 7q34-q36 # Metabolic_Enzyme_5_SNPs: rs1049742; rs10156191; rs1049793; rs6943147; ...
  • 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. ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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