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Table 2 Biochemical and molecular features

From: Delineation of cystinuria in Saudi Arabia: A case series

 

Biochemical

Molecular

Amino acidsa

SLC3A1

Exon

SLC9A7

Cases

Cys.

Arg.

Orn.

Lys.

   

Case 1

160

790

177

1179

   

Case 2

98

337

163

267

c.1711 T > A p.571Cys571Ser

10

 

Case 3

310

3885

508

772

c.1711 T > A p.571Cys571Ser

10

 

Case 4

211

558

350

718

   

Case 5

211

224

97

357

 

11

c.1166 C > T p.Thr389Met

Case 6

177

557

235

594

c.1400 T > A p.Met467Lys

8

 

Case 7

112

244

108

197

c.1400 T > A p.Met467Lys

8

 

Case 8

93

177

83

158

c.1400 T > A p.Met467Lys

8

 
  1. aCut off: cystine: 4–12 μmol/mmol crea.; ornithine: 0–6 μmol/mmol crea.; arginine 0–6 μmol/mmol crea.; and lysine: 10–56 μmol/mmol crea