GLB1 C521C - GET-Evidence

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

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Curation:
Currentness:

GLB1 C521C

(GLB1 Cys521Cys)


Short summary

Expression studies show that the variant reduces activity of b-galactosidase to 25% of wild type. There is disagreement in the literature whether this variant causes GM1-gangliosidosis.

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

recessive

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Silva CM, Severini MH, Sopelsa A, Coelho JC, Zaha A, d'Azzo A, Giugliani R. Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis. Hum Mutat. 1999;13(5):401-9. PubMed PMID: 10338095.

This variant is found with an allelic frequency of 0.04 in a population in Brazil. The authors classify it as a benign polymorphism.

Caciotti A, Donati MA, Boneh A, d'Azzo A, Federico A, Parini R, Antuzzi D, Bardelli T, Nosi D, Kimonis V, Zammarchi E, Morrone A. Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. Hum Mutat. 2005 Mar;25(3):285-92. PubMed PMID: 15714521.

This variant is identified in a homozygous fashion in a Moroccan female with GM1-gangliosidosis. Onset was at 27y. Expression studies showed that the mutation led to a decrease in protein expression to 25% of wild type, mimicking the blood work of the patient. Frequency in 200 control chromosomes was less than 0.01.

Genomes
 

Other external references
 

    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = –14
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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