AGL G1115R - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

AGL G1115R

(AGL Gly1115Arg)


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 @ chr1:100361925: 4.1% (436/10758) in EVS
  • A @ chr1:100134512: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 4.1% (436/10758)

Publications
 

Genomes
 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr1:100361925

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr1:100134513

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr1:100134513

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr1:100134513

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr1:100134513

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr1:100134513

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr1:100134513

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr1:100134513

 

Other external references
 

    dbSNP
  • rs2230307
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.998 (probably damaging)
    Web search results (12 hits -- see all)
  • PubMed: 10982190
    Recent studies of the AGL gene have revealed the prevalent mutations ... study: three amino acid substitutions (R387Q, G1115R, and E1343 K), one silent point ...
    www.genome.jp/dbget-bin/www_bget?pubmed+10982190
  • Heterogeneous mutations in the glycogen-debranching enzyme ...
    Recent studies of the AGL gene have revealed the prevalent mutations ... study: three amino acid substitutions (R387Q, G1115R, and E1343 K), one silent point ...
    www.ncbi.nlm.nih.gov/pubmed/10982190
  • Glycogen storage disease type IIIa: first report of a ...
    Several different mutations in the glycogen-debranching enzyme gene AGL have been found in patients with glycogen storage disease type III (GSD III) to date, but no ...
    www.medscape.com/medline/abstract/10571954
  • Glycogen storage disease type IIIa: first report of a ...
    Glycogen storage disease type IIIa: first report of a causative missense ... Because homo-zygotes for G1115R were found in healthy controls, G1115R seems to be a ...
    www.ncbi.nlm.nih.gov/pubmed/10571954
  • 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
  • PubMed: 10571954
    PMID: 10571954 Authors: Okubo M, Kanda F, Horinishi A, Takahashi K, Okuda S, Chihara K, ... Because homo-zygotes for G1115R were found in healthy controls, G1115R seems to be a ...
    www.genome.jp/dbget-bin/www_bget?pubmed+10571954
  • Heterogeneous mutations in the glycogen-debranching enzyme ...
    Glycogen storage disease type IIIa (GSD IIIa) is an autosomal recessive disorder caused by deficiency of the glycogen-debranching enzyme (AGL)
    www.medscape.com/medline/abstract/10982190
  • Glycogen storage disease type IIIa: first report of a ...
    a valid UniProt identifier, for example: P00750 or A4_HUMAN or ... Because homo-zygotes for G1115R were found in healthy controls, G1115R seems to be a ...
    www.uniprot.org/citations/10571954
  • Heterogeneous mutations in the glycogen-debranching enzyme ...
    Recent studies of the AGL gene have revealed the prevalent mutations ... study: three amino acid substitutions (R387Q, G1115R, and E1343 K), one silent point ...
    www.uniprot.org/citations/10982190
  • Glycogen Storage Disease Type III :: genetics
    Recent studies of the AGL gene have revealed the prevalent mutations ... study: three amino acid substitutions (R387Q, G1115R, and E1343 K), one silent point ...
    lib.bioinfo.pl/meid:152739

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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