Family
member
Glucose excretion
(g/1.73 m2/24h)
Region
Nucleotide
Change;Allele 1
Nucleotide
Change;Allele 2
Mutation
State
Mutation
Type
Amino Acid
change
Patient 1
5.8
Exon 12
c.1566C>A
(TGC/TGA)
Wt
Heterozygous
Nonsense
p.C522X
Patient 2
5.2
Exon 12
c.1566C>A (TGC/TGA)
Wt
Heterozygous
Nonsense
p.C522X
Mother
2.0
Exon 12
c.1566C>A (TGC/TGA)
Wt
Heterozygous
Nonsense
p.C522X
Father
0.11
Exon 12
Wt
Wt
-
-
-
Table 2:
Mutation analysis and glucose excretion in affected individuals.