Table 1 Individual characteristics of the GALT genotype in 13 Korean patients with decreased GALT enzyme activity
Case no. | Age (month) | Sex | Location | Nucleotide change* | Amino acid change | GALT activity†(μmol/h/g Hb) | Category‡ |
|---|---|---|---|---|---|---|---|
1 | 24.5 | M | Exon 3 | c.286_299delGACAACGACTTCCC | p.Asp96Serfs*5 | < 0.1 | G/G |
IVS 4 | c.378-1G > C | p.? | |||||
2 | 1.8 | F | Exon 3 | c.286_299delGACAACGACTTCCC | p.Asp96Serfs*5 | 7.3 | G/G |
IVS 8 | c.821-7A > G | Exon 9 deletion | |||||
3 | 2.3 | F | Exon 5 | c.493 T > C | p.Tyr165His | 6.3 | G/G |
Exon 10 | c.998G > A | p.Arg333Gln | |||||
4 | 1.7 | M | Exon 10 | c.998G > A | p.Arg333Gln | 1.8 | G/G |
Exon 10 | c.998G > A | p.Arg333Gln | |||||
5 | 1.1 | F | Exon 3 | c.302C > A | p.Ala101Asp | 6.2 | G/D |
Exon 10 | c.940A > G | p.Asn314Asp§ | |||||
6 | 2.9 | M | Exon 9 | c.826_827delinsAA | p.Ala276Asn | 5.9 | G/D |
Exon 10 | c.940A > G | p.Asn314Asp§ | |||||
7 | 3.1 | M | Exon 4 | c.346C > A | p.Leu116Ile | 15.6 | G/N |
8 | 2.2 | F | Exon 7 | c.602G > A | p.Arg201His | 14.5 | G/N |
9 | 3.1 | M | Exon 8 | c.769C > A | p.Pro257Thr | 11.6 | G/N |
10 | 2.9 | F | Exon 11 | c.1087G > A | p.Glu363Lys | 16.4 | G/N |
11 | 3.0 | F | Exon 10 | c.940A > G | p.Asn314Asp§ | 12.5 | D/D |
12 | 3.5 | F | Exon 10 | c.940A > G | p.Asn314Asp§ | 12.6 | D/N |
13 | 5.2 | M | Exon 10 | c.940A > G | p.Asn314Asp§ | 16.1 | D/N |