Mutations
|
Exons
|
Amino acid substitution
|
Enzyme activity U/g Hb
|
Enzyme activity compared to cut off (%)
|
---|
c.C563T#
|
Exon 6
|
p. Ser188Phe
|
3.52
|
52.19% ↓
|
c.C563T#
|
Exon 6
|
p. Ser188Phe
|
11.89
|
38.02% ↑
|
- #indicates heterozygous variants; ↓ indicates lower; ↑ indicates higher