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Table 3:

Missense mutations of the GFAP gene in 11 patients with AOAD

Pt/Age/SexMissense Mutations
ExonNucleotide ChangeAmino Acid Substitution
1/26/M6c.1076T>Cp.L359P*
2/36/F8c.1178G>Tp.S393I*
3/26/M8c.1246C>Tp.R416W
4/39/F1c.209G>Ap.R70Q*
5/30/M3c.613G>Ap.E205K
6/43/F1c.208C>Tp.R70W
7/61/M6c.994G>Ap.E332K
8/58/M3c.613G>Ap.E205K
 9/52/F8c.1193C>Ap.S398Y
10/64/M1c.382G>Ap.D128N
11/45/M§
  • Note:GFAP indicates glial fibrillary acidic protein; AOAD, adult-onset Alexander disease.

  • * Mutations p.L359P,17 p.S393I,18 and p.R70Q19 have been found in these patients for the first time.

  • These mutations have not been reported previously.

  • Molecular data of patients 3 and 6 have been reported previously.19

  • § Patient 11 carried no causative mutations but harbored the p.D157N rare polymorphism.