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The mutation substitutes an arginine for a highly conserved tryptophan in the nucleotide-diphospho-sugartransferase domain of the gene (c.T388C:p.W130R), which is in the N-terminal domain of the enzyme. (J:263533, J:277245)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
