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Table 1 List of mutations in this cohort of Fabry disease patients

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

  1. ACMG American College of Medical Genetics