UGT8 P226L - 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:

UGT8 P226L

(UGT8 Pro226Leu)


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 @ chr4:115544713: 2.5% (264/10758) in EVS
  • TG @ chr4:115764161: 4.0% (4/100) in GET-Evidence
  • Frequency shown in summary reports: 2.5% (264/10758)

Publications
 

Genomes
 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het CG @ chr4:115544713

 

GS18940 - var-GS18940-1100-36-ASM
hom TG @ chr4:115764162

 

Other external references
 

    dbSNP
  • rs4148254
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs6851610
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.999 (probably damaging)
    Web search results (8 hits -- see all)
  • UGT8 Gene - GeneCards | CGT Protein | CGT Antibody
    Regulatory transcription factor binding sites in the UGT8 gene upstream (promoter) region ... UGT8 Gene in genomic location: bands according to Ensembl, locations ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=UGT8
  • Pharma DMET - SNPedia
    Pharma DMET. From SNPedia. Jump to: navigation, search. See also Pharma ADME ... (rs2235015) noncore snp rs2235015 ABCB1 ABCB1_2995G>A(A999T) ABCB1_2995G>A(A998T) ...
    www.snpedia.com/index.php/Pharma_DMET
  • 2-hydroxyacylsphingosine 1-beta-galactosyltransferase ...
    UGT8. Synonyms: CGT, UGT4. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... P L: dbSNP rs4148254. VAR_052466. Natural variant. 368. 1. I M: dbSNP ...
    www.uniprot.org/uniprot/Q16880
  • HMDB00302.txt
    Uridine diphosphategalactose serves as a source of galactose in the synthesis of ... 4q26 # Metabolic_Enzyme_8_SNPs: rs4148254; rs11098261; rs4148255; rs6851610; ...
    wishart.biology.ualberta.ca/polysearch/.../HMDB00302.txt
  • UniProt: Q16880
    AC Q16880; B3KXU7; O00196; DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot. ... GC04P115739; -. DR H-InvDB; HIX0024588; -. DR HGNC; HGNC:12555; UGT8. ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q16880

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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