FUT6 R303G - GET-Evidence

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

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See unpublished research (below).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See Elmgren A et al. 2000 (11102976), unpublished research (below).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See unpublished research (below).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See unpublished research (below).


No treatment necessary.

See unpublished research (below).

Penetrance -


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)


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.



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

  • rs61745631
  • rs61147939
  • 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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