Table 2.

Overview of the identified α-galactosidase A mutations in the Fabry disease patients.

missense mutations [n=15]	nonsense mutations [n=9]
p.G35E, p.L45P, p.I91T, p.R112C, p.A143T (2x), p.A160P, p.C202Y, p.N215S (3x), p.I242V, p.G274D, p.P301Q, p.R342Q	single nucleotide stop codon mutations p.Y151X, p.Y216X, p.R227X, p.W349X insertions/deletions c.702_del8bp, c.714_715ins, c.723dupT, c.744_745del, c.762ins282bp