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, 27–30]
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

(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).

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ISSN: 1750-1172

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