FUT6 R303G - GET-Evidence

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

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Curation:
Currentness:

FUT6 R303G

(FUT6 Arg303Gly)


Short summary

As 9% of individuals on the island of Java (Indonesia) do not express this enzyme, deficiency of it is probably benign. This variant was implicited as causing alpha-1,3-fucosyltransferase deficiency in a recessive manner in two Indonesian families when in combination with P124S.

Variant evidence
Computational 2

NBLOSUM = 4, other variants in this gene are associated with this phenotype.

See unpublished research (below).

Functional 2

R303G was shown to have partial inactivation of activity and partial deficiency in plasma when in combination with P124S. Each variant singly appears to have some effect, with a larger combined effect.

See Elmgren A et al. 2000 (11102976), unpublished research (below).

Case/Control -
Familial 2

Seen in two families, but in combination with another variant.

See unpublished research (below).

 
Clinical importance
Severity 1

High incidence of this deficiency in Indonesia seems to imply little or no ill effects.

See unpublished research (below).

Treatability

No treatment necessary.

See unpublished research (below).

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

  • C @ chr19:5831672: 7.4% (797/10706) in EVS
  • C @ chr19:5782671: 10.7% (12/112) in GET-Evidence
  • Frequency shown in summary reports: 7.4% (797/10706)

Publications
 

Elmgren A, Börjeson C, Mollicone R, Oriol R, Fletcher A, Larson G. Identification of two functionally deficient plasma alpha 3-fucosyltransferase (FUT6) alleles. Hum Mutat. 2000 Dec;16(6):473-81. PubMed PMID: 11102976.

This variant is autosomal recessive for deficiency in plasma α3-fucosyltransferase activity in two Indonesian individuals. TAF is unknown.

Genomes
 

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr19:5831672

 

 

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr19:5831672

 

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr19:5782672

 

GS18526 - var-GS18526-1100-36-ASM
hom C @ chr19:5782672

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr19:5782672

 

GS18940 - var-GS18940-1100-36-ASM
hom C @ chr19:5782672

 

GS18947 - var-GS18947-1100-36-ASM
hom C @ chr19:5782672

 

GS19735 - var-GS19735-1100-36-ASM
het C @ chr19:5782672

 

Other external references
 

    dbSNP
  • rs61745631
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs61147939
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.725 (possibly damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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