Table 2

GLA gene mutations identified in Italian patients with Fabry disease

PhenotypeExon/intron locationNucleotide changeEffect on coding sequenceGenotypeReference
1.1ClassicalExon 1c126-127insCATGFrameshift/stop codonc126-127 insCATGThis work
1.2ClassicalExon 1c126-127insCATGFrameshift/stop codonc126-127 insCATGThis work
2.1ClassicalExon 4c617-618delTTFrameshift/stop codonc617-618delTTThis work
3.1ClassicalExon 6c946delGFrameshift/stop codonc946delGThis work
4.1ClassicalIntron 3IVS3+1G>ASplicing defectIVS3+1G>A 21
5.1ClassicalExon 3c500T>CAmino acid changeL167PThis work
6.1ClassicalExon 7c1055C>AAmino acid changeA352D (de novo)This work
7.1ClassicalExon1 (helix terminus)c119C>TAmino acid changeP40L 21
8.1ClassicalExon 7 (disulphide)c1133G>AAmino acid changeC378Y 29
9.1ClassicalExon 5 (active site)c680A>TAmino acid changeR227Q 22
9.2ClassicalExon 5 (active site)c680A>TAmino acid changeR227Q 22
9.3ClassicalExon 5 (active site)c680A>TAmino acid changeR227Q 22
10.1ClassicalExon 7c1095T>AStop codonY365X (de novo) 31
11.1ClassicalExon 5c658C>TStop codonR220X 30
12.1ClassicalExon 2c233C>GStop codonS78X 28
13.1ClassicalExon 2c233C>GStop codonS78X 28
14.1ClassicalExon 5 (buried)c708G>CAmino acid changeW236C 19
14.2ClassicalExon 5 (buried)c708G>CAmino acid changeW236C 19