GALNT5 P77L - 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:

GALNT5 P77L

(GALNT5 Pro77Leu)


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 @ chr2:158114824: 0.0% (5/10758) in EVS
  • T @ chr2:157823069: 0.8% (1/124) in GET-Evidence
  • Frequency shown in summary reports: 0.0% (5/10758)

Publications
 

Genomes
 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het T @ chr2:158114824

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr2:157823070

 

Other external references
 

    dbSNP
  • rs3739112
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.302 (possibly damaging)
    Web search results (9 hits -- see all)
  • GALNT5 Gene - GeneCards | GALT5 Protein | GALT5 Antibody
    GALNT5 Gene in genomic location: bands according to Ensembl, locations according to (and ... GALNT5 for ontologies About GeneDecksing. Antibodies for GALNT5: ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT5
  • Mooney Lab - MutDB
    Mooney Lab Home Publications Research Contact Us. Gene ID: GALNT5 ... MutDB MutPred In Silico Functional Profiling PhenoPred S-BLEST CRP Web Services ...
    www.mutdb.org/cgi-bin/mutdb.pl?id=GALNT5&geneid=11227
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k ... 0;\-"ú"#,##0*"ú"#,##0;[Red]\-"ú"#,##0*"ú"#,##0.00;\-"ú"#,##0.00**#*"ú"#,##0.00; ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • Polypeptide N-acetylgalactosaminyltransferase 5 - Homo ...
    GALNT5. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic identifier. 9606 [NCBI] ... P L: dbSNP rs3739112. VAR_019578. Natural variant. 489. 1. Q H: dbSNP ...
    www.uniprot.org/uniprot/Q7Z7M9
  • Catalogue of Somatic Mutations in Cancer
    GALNT5. p.E507D. BB27T. DIP2C. p.V409fs*37. BB27T. SPTAN1. p.D1918N. BB27T. ITGA9. p.R750C. BB27T ... GALNT5. p.L692F. HCC1937. ERCC3. p.K418Q. HCC1937. ARFRP1. p.L108V. HCC1937. ARFGEF2. p.W1535 ...
    sanger.ac.uk/perl/genetics/CGP/cosmic?...&paper_id=21930
  • HMDB00304.txt
    ... <html><head></head><body><pre># Accession_No: HMDB00304 # Creation_Date: 2005-11-16 15:48: ... Description: A nucleoside diphosphate sugar which serves as a source ...
    wishart.biology.ualberta.ca/polysearch/.../HMDB00304.txt
  • UniProt: Q7Z7M9
    AC Q7Z7M9; Q9UGK7; Q9UHL6; DT 16-AUG-2004, integrated into UniProtKB ... N-acetylgalactosaminyltransferase 5; GN Name=GALNT5; OS Homo sapiens (Human). OC ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q7Z7M9

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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