GBE1 T507A - 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:

GBE1 T507A

(GBE1 Thr507Ala)


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

  • C @ chr3:81627175: 5.4% (535/9926) in EVS
  • C @ chr3:81709864: 11.1% (14/126) in GET-Evidence
  • Frequency shown in summary reports: 5.4% (535/9926)

Publications
 

Genomes
 

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr3:81709865

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr3:81709865

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr3:81709865

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr3:81709865

 

GS18517 - var-GS18517-1100-36-ASM
hom C @ chr3:81709865

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr3:81709865

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr3:81709865

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr3:81709865

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr3:81709865

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr3:81709865

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr3:81709865

 

GS19240 - var-GS19240-1100-36-ASM
hom C @ chr3:81709865

 

Other external references
 

    dbSNP
  • rs2228389
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the GBE1 gene
    Adult Polyglucosan Body Disease
    GBE1-Related Disorders
    Glycogen Storage Disease Type IV
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GBE1
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (4 hits -- see all)
  • Type I- 95%
    ... head><body><pre>Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... Polymorphism (dbSNP:rs9868484) GBE1 Q04446 T507A 507 VAR_034749 CDK ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k₧kƒkákíkókúkñkÑkªkºk¿kk¬k½k ... 0_-;_-"ú"* "-"_-;_-@0_-;\-* #,##0_-;_-* "-"_-;8_-"ú"* #,##0.00_-;\-"ú" ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • Type I- 97%
    ... CK1 (0.632) Con1-, abolishes the glycosylation site at position 238 8554050 NME1 ... 729) Polymorphism (dbSNP:rs9868484) GBE1 Q04446 T507A 507 VAR_034749 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_97.txt

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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