Table 3Recurrent point mutations in the α-galactosidase A gene published in the literature

Very likely*Putative†
p.Arg112Hisp.Met296Ile
p.Arg112Cysp.Trp204X
p.Ala143Pro
p.Gln157X
p.Asn215Ser
p.Arg227Gln
p.Arg227X
p.Trp340X
p.Arg342Gln
p.Arg342X
c.639 (IVS4)+919G>A

*Independent occurrence of mutations was proven (e.g. by family analysis and/or haplotyping).

†Detected in two or more apparently unrelated patients, but no experimental proof was presented that the mutations were independent.

Mutations due to changes in CpG dinucleotides are underlined.

From: Chapter 33, The genetic basis of Fabry disease

Cover of Fabry Disease
Fabry Disease: Perspectives from 5 Years of FOS.
Mehta A, Beck M, Sunder-Plassmann G, editors.
Oxford: Oxford PharmaGenesis; 2006.
Copyright © 2006, Oxford PharmaGenesis™.

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