Table 2. Mutation and ethnicity details of PNDM patients.
Patient No. | Ethnicity | Type | Gene | Location | Nucleotide variant | Protein Effect |
---|---|---|---|---|---|---|
3 | Arab/African | HO | GCK | Exon 3 | c.292C>T | p.Glu98Ter |
4 | Arab/African | HO | GCK | Exon 3 | c.292C>T | p.Glu98Ter |
5 | Arab/African | HO | GCK | Exon 3 | c.292C>T | p.Glu98Ter |
6 | Arab/African | HO | GCK | Exon 3 | c.292C>T | p.Glu98Ter |
7 | Arab/African | HO | GCK | Exon 3 | c.292C>T | p.Glu98Ter |
8 | Arab/African | HO | GCK | Exon 7 | c.781G>A | p.Gly261Arg |
9 | Arab/African | HO | GCK | Exon 7 | c.781G>A | p.Gly261Arg |
10 | Balushi | HR | KCNJ11 | Exon1 | c.175G> A | p.Val59Met |
11 | Arab | HO | SLC2A2 | Exon9 | c.1127T>G | p.Met376Arg |
12 | Arab | HO | SLC2A2 | Exon9 | c.1127T>G | p.Met376Arg |
13 | Arab | HO | SLC2A2 | Exon9 | c.1127T>G | p.Met376Arg |
14 | African | HO | IL2RA | Exon5 | c.418T>C | p.Tyr140His |
15 | Arab | HO | LRBA | Exon 23 | c.3188C>T | p.Arg1271Ter |