Table 3:

Missense mutations of the GFAP gene in 11 patients with AOAD

Pt/Age/Sex	Missense Mutations
	Exon	Nucleotide Change	Amino Acid Substitution
1/26/M	6	c.1076T>C	p.L359P*
2/36/F	8	c.1178G>T	p.S393I*
3/26/M	8	c.1246C>T‡	p.R416W
4/39/F	1	c.209G>A	p.R70Q*
5/30/M	3	c.613G>A	p.E205K†
6/43/F	1	c.208C>T‡	p.R70W
7/61/M	6	c.994G>A	p.E332K
8/58/M	3	c.613G>A	p.E205K†
9/52/F	8	c.1193C>A	p.S398Y†
10/64/M	1	c.382G>A	p.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.