From: Higher rate of rheumatic manifestations and delay in diagnosis in Brazilian Fabry disease patients
# of patients | Exon | Molecular | Mutation | Type | Description | ACMG Classification [16] | Clinical Classification | Amenability |
---|---|---|---|---|---|---|---|---|
8 | 3 | c. 424 C > T (p. Cys142Arg) | C142R | missense | Topaloglu et al. 1999 [25] | 1 | Pathogenic | No |
8 | 3 | c. 467 C > A (p.Ala156Asp) | A156D | missense | Turaça et al. 2012 [26] | 1 | Pathogenic | No |
3 | 3 | c. 540 G > T (p. Leu180Phe) | L180F | missense | Serebrinsky et al. 2012 [27] | 1 | Pathogenic | Yes |
2 | 5 | c. 679 C > T (p. Arg227*) | R227X | nonsense | Davies et al. 1993 [28] | 1 | Pathogenic | No |
3 | 5 | c. 785 G > A (p. Trp262*) | W262X | nonsense | Shabbeer et al. 2006 [29] | 1 | Pathogenic | No |
5 | 6 | c. 812 G > C (p. Gly271Ala) | G271A | missense | Rosa Neto 2014 [30] | 1 | Pathogenic | Yes |
1 | 6 | c. 877 C > T (p. Pro293Ser) | P293S | missense | Cooper et al. 2000 [31] | 1 | Pathogenic | No |
7 | 7 | c. 1235_1236delCT (p. Tyr264Serfs*) | Y264SX | deletion | Blaydon et al. 2001 [32] | 1 | Pathogenic | No |