MBL2 R52C - GET-Evidence

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

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Curation:
Currentness:

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MBL2 R52C

(MBL2 Arg52Cys)


You are viewing an old version of this page that was saved on February 9, 2010 at 9:48am by Abraham Rosenbaum.

Edited in this revision:

Short summary

This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. See G57E.

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

  • A @ chr10:54531242: 4.9% (523/10758) in EVS
  • A @ chr10:54201247: 4.0% (5/126) in GET-Evidence
  • Frequency shown in summary reports: 4.9% (523/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr10:54531242

 

snp-6

 

Other external references
 

    dbSNP
  • rs5030737
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.999 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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