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Table 1 Overview on the most frequent cystinuria mutations in a) SLC3A1, and b) SLC7A9 in different ethnic groups

From: Cystinuria: an inborn cause of urolithiasis

a) SLC3A1
Cohort Cohort size(n)° p.Tyr151Cys/Asn* p.Thr216Met p.Arg270X/Leu* p.Arg362Cys/His* p.Arg365Gln/
Trp/Leu/Pro*
p.Arg452Trp/X* p.Met467Thr p.Met467Lys p.Ser547Trp/Lys* dupE5E9 Identified Alleles Methods References
Exon   2 3 4 6 6 8 8 8 10 5-9    
Europe               
Czech/Slovakia 24 0 5 0 0 1 3 12 0 1 ND 29 sequencing [26]
Germany 75 0 7 1 1 5 1 19 0 2 13 69 sequencing, qPCR [25, 2730]
Greece 20 0 9 2 0 1 0 4 0 0 ND 21 SSCP, RFLP [31]
  4 0 8 0 0 0 0 0 0 0 ND 8 sequencing [25, 27, 28, 30, 32]
Italy 168 2 10 1 5 5 4 34 7 9 11 145 sequencing, MLPA [24]
  12 0 1 0 0 1 0 1 2 0 0 5 sequencing, qPCR [25, 27, 28, 30, 32]
Poland 9 0 1 0 0 0 1 1 0 0 2 5 sequencing, qPCR [29]
Portugal 12 0 0 0 0 0 0 2 0 0 4 13 sequencing, MLPA, RNA [33]
Sweden 43 8 0 0 1 0 0 43 0 1 ND 53 SSCP [34]
Spain 142 0 2 0 1 2 2 12 0 0 0 63 sequencing, MLPA [35], for review: [4]
former Yugoslavia 13 0 15 0 0 2 0 2 0 0 0 8 sequencing, qPCR [25, 27, 28, 30, 32]
Asia               
China 8 0 0 0 0 2 0 0 0 1 ND 6 sequencing [37]
Israel 5 0 0 10 0 0 0 0 0 0 ND 10 cDNA sequencing [18]
Japan 36 0 0 0 0 0 0 0 0 0 ND 8 RNA SSCP [38]
Turkey 24 ND ND ND ND ND ND 4 2 ND ND 6 RFLP [39]
Turkey 17 0 6 0 0 0 0 1 0   0 9 seqencing, qPCR [25, 27, 28, 30, 32]
North America               
Canada (French) 20 0 2 1 0 0 0 2 0 0 ND 16 RNA Mismatch [40]
USA (Texas) 33 0 0 4 0 0 1 12 0 0 ND 34 SSCP
RNA MistMatch
[41]
Total   10 66 19 8 19 12 149 11 14 30 508   
Ratio of known alleles (%)   1.9 13.0 3.7 1.6 3.7 2.4 29.3 2.2 2.6 11.1    
b) SLC7A9
Cohort Cohort size
(n)°
p.Gly105Arg p.Thr123Met p.Val170Met p.Ala182Thr p.Glu244del p.Ala331Val p.Arg333Trp/Gln p.Pro482Leu c.614dupA Identified Alleles Methods References
Exon   4 4 5 5 7 10 10 13 6    
Europe              
Czech/Slovakia 24 3 2 0 0 0 0 0 0 1 11 sequencing [26]
Germany 75 10 0 0 2 1 1 3 0 1 32 sequencing, qPCR  
Greece 20 11 0 0 0 0 0 4 0 0 22 SSCP, RFLP [31]
  4 0 0 0 0 0 0 0 0 0 0 sequencing [25, 27, 28, 30, 32]
Italy 168 44 1 0 7 4 0 18 1 2 163 sequencing, MLPA [24]
  12 2 0 0 0 1 0 1 0 0 6 sequencing, qPCR [25, 27, 28, 30, 32]
Poland 9 0 0 0 0 0 0 0 0 0 1 sequencing, qPCR [29]
Portugal 12 0 0 0 0 0 0 0 0 1 8 sequencing, MLPA, RNA [33]
Sweden 15 0 0 0 1 0 0 0 0 0 1 SSCP [17]
Spain 142 14 9 0 4 1 0 20 0 21 72 sequencing,, MLPA, SSCP [for review: 4]
former Yugoslavia 13 1 0 0 0 0 0 0 0 0 3 sequencing, qPCR [25, 27, 28, 30, 32]
Asia              
China 8 0 0 0 0 0 0 0 0 0 7 sequencing [35]
Israel, Libyan 8 ND ND 16 ND ND ND ND ND ND 16 cDNA sequencing [16]
Japan 39 0 0 0 0 0 0 3 56   66 RNA SSCP [42]
Turkey 17 1 0 0 0 0 4 0 0 0 12 seqencing, qPCR [25, 27, 28, 30, 32]
  13 0 0 0 0 0 0 0 0 1 5 SSCP [35]
North America
Canada (French)
             
Total   86 12 16 14 7 5 49 57 27 425   
Ratio of known alleles   20.2 2.8 3.8 3.3 1.6 1.2 11.5 13.4 6.4    
  1. (frequent mutations or population specific frequencies are printed in bold face. ° total number of patients screened in this study, including classified and unclassified patients * different basepair substitutions have been reported affecting the same codon. # only single study cohorts were screened for this variant, here the total number of alleles is 271; RFLP restriction fragment length polymorphism; qPCR quantitative PCR, SSCP single strand conformation polymorphism analysis, ND not determined).