Table 1 Reported mutated types of GLUD1 gene in GDH-HI patients
From: Glutamate dehydrogenase hyperinsulinism: mechanisms, diagnosis, and treatment
Exons | Gene mutation | Protein variation | References |
|---|---|---|---|
6 | c.809C > G | p.S270C | Trana et al. [32] |
6 | c.820C > T | p.R274C(p.R221C) | Roy et al. [38] |
6 | c.822C > G | p.S217C | Macmullen et al. [11] |
7 | c.943C > T | p.H315Y | Faletra et al. [39] |
7 | c.955 T > C | p.Y319H | Faletra et al. [39] |
7 | c.965C > T | p.R322H(p.R269H) | Xu et al. [20] |
7 | c.966G > A | p.R265K(p.R318K) | Kapoor et al. [21] |
7 | c.966G > C | p.R265T | Macmullen et al. [11] |
7 | c.969A > G | p.Y266C | Macmullen et al. [11] |
7 | c.977C > T | p.R269C | Macmullen et al. [11] |
7 | c.1046A > C | p.E349A(p.E296A) | ClinVar |
7 | c.1058G > C | p.E296Q | Bahi-Buisson et al. [18] |
10 | c.1387A > T | p.N463Y | Faletra et al. [39] |
10 | c.1388A > T | p.N463I | Sang et al. [31] |
10 | c.1388A > G | p.N463S | Sang et al. [31] |
10 | C20.1400A > G | p.N410D | Kapoor et al. [21] |
10 | c.1401A > C | p.N410T | Kapoor et al. [21] |
10 | c.1401A > T | p.N410I | Fang et al. [13] |
10 | c.1396 T > G | p.L413V | David et al. [19] |
11 | c.1479C > T | p.P436L | Kapoor et al. [21] |
11 | c.1486A > T | p.R443W | Ninković et al. [2] |
11 | c.1492C > A | p.F440L | Stanley et al. [40] |
11 | c.1494A > G | p.Q441R | Stanley et al. [40] |
11 | c. 1493C > T | p.S498L (p.S445L) | Barrosse-Antle et al. [41] |
12 | c.1493G > C | p.G446A | Stanley et al. [40] |
12 | c.1495C > A | p.G499C (p.G446C) | Sang et al. [31] |
12 | c.1496G > T | p.G499V | Luczkowska et al. [42] |
12 | c.1498G > A | p.A500T | Faletra et al. [39] |
12 | c.1508G > C | p.G446R | Stanley et al. [40] |
12 | c.1508G > A | p.G446S (p.G499S) | Stanley et al. [40] |
12 | c.1509G > A | p.G446D(p.G499D) | David et al. [19] |
12 | c.1509G > T | p.G446V | Stanley et al. [40] |
12 | c.1511G > A | p.A447T | Stanley et al. [40] |
12 | c.1514 T > C | p.S448P(p.S501P) | David et al. [19] |
12 | c.1516G > A | p.V453M | David et al. [19] |
12 | c.1519G > A | p.H507Y(p.H454Y) | Sang et al. [31] |
12 | c.1520A > G | p.K503E (p.K450E) | David et al. [19] |
12 | c.1524A > T | p.D451V | Kapoor et al. [21] |
12 | c.1526G > C | p.G509A | Trana et al. [32] |