GBA H311R - GET-Evidence

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

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Curation:
Currentness:

GBA H311R

(GBA His311Arg)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(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

  • None available.

Publications
 

Genomes
 

Other external references
 

    Web search results (8 hits -- see all)
  • OMIM: 606463
    Three studies suggested localization of the GBA gene in distal 1q31 or proximal ... 8 of the GBA gene, resulting in a his311-to-arg (H311R) substitution. ...
    www.genome.jp/dbget-bin/www_bget?omim+606463
  • OMIM: 608013
    GBA enzyme activity was severely decreased in leukocytes from the patient. ... identified a homozygous mutation in the GBA gene (H311R; 606463.0037) ...
    www.genome.jp/dbget-bin/www_bget?omim+608013
  • Glucocerebrosidase gene mutations in patients with type 2 ...
    All 62 mutant glucocerebrosidase (GBA) alleles were identified. ... patients: R131L, H255Q, R285H, S196P, H311R, c.330delA, V398F, F259L, c.533delC, ...
    www.ncbi.nlm.nih.gov/pubmed/10649495
  • Analysis and Classiļ¬cation of 304 Mutant Alleles in Patients ...
    S196P, G202R, and H311R also result in type 2. Gaucher disease. Homozygosity for mutation ... [GBA] [accession number JO3059]) Online Mendelian Inheritance in Man ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Gaucher Disease :: embryology
    All 62 mutant glucocerebrosidase (GBA) alleles were identified. Thirty-three different ... these patients: R131L, H255Q, R285H, S196P, H311R, c.330delA, V398F, F259L, c.533delC, ...
    lib.bioinfo.pl/meid:295882

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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