B4GALT5 G61S - 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:

B4GALT5 G61S

(B4GALT5 Gly61Ser)


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 @ chr20:48273174: 1.3% (140/10758) in EVS
  • T @ chr20:47706580: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 1.3% (140/10758)

Publications
 

Genomes
 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr20:47706581

 

Other external references
 

    dbSNP
  • rs2273086
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.303 (possibly damaging)
    Web search results (4 hits -- see all)
  • B4GALT5 Gene - GeneCards | B4GT5 Protein | B4GT5 Antibody
    EntrezGene summary for B4GALT5: This gene is one of seven beta-1,4-galactosyltransferase ... B4GALT5 Gene in genomic location: bands according to Ensembl, ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALT5
  • Beta-1,4-galactosyltransferase 5 - Homo sapiens (Human)
    ... OS=Homo sapiens GN=B4GALT5 PE=2 SV=1 MRARRGLLRLPRRSLLAALFFFSLSSSLLYFVYVAPGIVNTYLFMMQAQGILIRDNVRTI ... B4GALT5. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ...
    www.uniprot.org/uniprot/O43286
  • HMDB00302.txt
    Uridine diphosphategalactose serves as a source of galactose in the synthesis of ... 2 # Metabolic_Enzyme_4_SNPs: rs2273086; rs235035; rs421801; rs2235855; ...
    wishart.biology.ualberta.ca/polysearch/.../HMDB00302.txt

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in