Table 2.
Mutations in the NAGS gene.
| NAGS gene mutation | Homozygous | Heterozygous |
|---|---|---|
| Missense mutations | ||
| c.499A > G (p.M167V) | 1 | |
| c.518T > A (p.V173E) | 1 | |
| c.598T > C (p.C200R) | 2 | |
| c.603G > C (p.K201N) | 1 | |
| c.779C > T (p.P260L) | 1 | |
| c.791C > T (p.T264M) | 1 | |
| c.835G > A (p.A279T) | 1 | |
| c.872T > A (p.I291N) | 1 | |
| c.929T > C (p.V310A) | 1 | |
| c.935T > C (p.L312P) | 1 | |
| c.1048G > A (p.V350I) | 1 | |
| c.1172T > G (p.L391R) | 1 | |
| c.1192A > T (p.S398C) | 1 | |
| c.1228T > C (p.S410P) | 2 | |
| c.1241G > C (p.R414P) | 1 | |
| c.1289T > C (p.L430P) | 2 | |
| c.1292C > T (p.T431I) | 2 | |
| c.1298A > G (p.E433G) | 1 | |
| c.1299G > C (p.E433D) | 1 | |
| c.1326C > G (p.L442V) | 1 | |
| c.1370G > A (p.G457D) | 1 | |
| c.1450T > C (p.W484R) | 6 | 1 |
| c.1526G > A (p.R509Q) | 1 | |
| c.1535A > G (p.Y512C) | 1 | |
| c.1552G > A (p.A518T) | 2 | |
| Nonsense mutations | ||
| c.971G > A (p.W324⁎) | 2 | |
| c.991C > T (p.Q324⁎) | 1 | |
| c.1264G > T (p.E422⁎) | 1 | |
| c.1494G > A (p.W498⁎) | 1 | |
| Frameshift mutations | ||
| c.278delC (p.93Qfs⁎18) | 1 | |
| c.545delC (p.A182Vfs⁎23) | 2 | |
| c.1025delG (p.R342Pfs⁎50) | 1 | |
| c.1036dupC (p.H346Pfs⁎10) | 1 | |
| c.1307dupC (p.T439Hfs⁎52) | 1 | |
| c.1313dupG (p.T439Hfs⁎52) | 1 | |
| c.1313delG (p.G438Afs⁎10) | 1 | |
| c.1464_1465del (p.H488Qfs⁎2) | 1 | |
| Splice-site mutations | ||
| c.916-2A > T | 1 | |
| c.1097-2A > T | 1 | |
| c.1097-1G > C | 1 | |
| c.1451+5G>A | 1 | |
| Total | 33 | 21 |
Second mutation was not found in three individuals in whom only one heterozygous mutation was identified.