ART1 R102H - 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:

ART1 R102H

(ART1 Arg102His)


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 @ chr11:3681054: 1.1% (123/10758) in EVS
  • A @ chr11:3637629: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 1.1% (123/10758)

Publications
 

Genomes
 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr11:3637630

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr11:3637630

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr11:3637630

 

Other external references
 

    dbSNP
  • rs2280133
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (4 hits -- see all)
  • HMDB00902.txt
    Green plants obtain ATP through photosynthesis, while other organisms ... ( wikipedia) A coenzyme composed of ribosylnicotinamide 5'-diphosphate coupled to ...
    wks16338.biology.ualberta.ca/~dean/polyomx/.../HMDB00902.txt
  • ART1 Gene - GeneCards | NAR1 Protein | NAR1 Antibody
    EntrezGene summary for ART1: ADP-ribosyltransferase catalyzes the ADP-ribosylation of ... ART1 Gene in genomic location: bands according to Ensembl, locations ...
    genecards.org/cgi-bin/carddisp.pl?gene=ART1&...&snp=83
  • HMDB01406.txt
    Its primary significance is in the prevention and/or cure of blacktongue and PELLAGRA. ... rs11028846; rs2271583; rs2280133; rs11028811; rs7123313; rs11028783; ...
    wishart.biology.ualberta.ca/polysearch/.../HMDB01406.txt

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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