List of mutations

Base and amino acid numbers correspond to the re-evaluated full length nucleotide sequence of human ADSL cDNA deposited in the EMBL database under accession number X65867 by E.A. Fon, and shown in Option 3.

Region	Base change	Amino acid change	Restriction site	Number of homozygote patients	Number of compound heterozygotes	S-Ado/ SAICA-riboside ratio	Mental retardation	Country of origin	References
E1	c.-49T>C				1 with R426H	0.9	severe	IT-USA	28, 34
5'UTR					1 with S447P		severe	NO	34
					1 with P318L	0.7	severe	Australia	34
E1	c.3A>T	M1L	- Fok I		1 with R374W		severe	FR
coding	c.7C>T	A2V	- Fnu 4 HI		1 with S395R	1.0	severe	NL	5, 28
	c.10C>T	A3V	- Fnu 4 HI		1 with R337X	0.9	severe	CZ	6
	c.78A>T	M26L			1 with R426H	0.9	severe	DE	5, 28
E2	c.216A>G	I72V	+ Mae II		1 with K246E	0.9	severe	BE	5
	c.300C>G	P100A			1 with D422Y	1.2	moderate	IT	33
	c.342T>C	Y114H	+ Nla III		2* with R190Q	2.1 - 2.2	moderate	CZ	6
E4	c.423C>T	R141W			1 with D 206-18	1.5	severe	DE	5, 28
E5	c.571G>A	R190Q			2* with Y114H	2.1 - 2.2	moderate	CZ	6
					1 with K246E	1.8	moderate	BE	5
	c.582C>T	R194C	- Hha I		1 with D268N	1.0	severe	CZ	6
					1 with R396C		severe	DE
	c.620C>A**	D 206-18	- Hae III		1 with R141W	1.5	severe	DE	5, 28
E7	c.738A>G	K246E			1 with 190Q	1.8	moderate	BE	5
					1 with I72V	0.9	severe	BE	5
E8	c.804G>A	D268N			1 with R194C	1.0	severe	CZ	6
E9	c.909C>T	R303C	- Mae II	2		3.0 - 3.7	mild	NL	5, 28
	c.933C>G	L311V	+ Mae II		1 with R396H		severe	SP	35
	c.955C>T	P318L	+ BspMI		1 with -49T>C	0.7	severe	Australia	34
	c.1011C>T	R337X			1 with A3V	0.9	severe	CZ	6
E10	c.1092G>A	V364M	+ Nla III		2* with R452P	1.1	severe	SP	35
E11	c.1122C>T	R374W	- Bsm I		1 with M1L		severe	FR
	c.1187C>A	S395R	- Fnu 4 HI		1 with A2V	1.0	severe	NL	5, 28
	c.1188C>T	R396C	+ Bbv I		1 with R194C		severe	DE
	c.1189G>A	R396H	- Fnu 4 HI		1 with L311V		severe	SP	35
E12	c.1266G->T	D422Y			1 with P100A	1.2	moderate	IT	33
	c.1269C>G	L423V			1 with R426H		moderate
	c.1279G->A	R426H		11		1.0 -1.6	severe	BE, CZ 5NL, 3*PT Turkey	5, 6, 28
					1 with M26L	0.9	severe	DE	5, 28
					1 with D430N	2.5	mild	USA	6
					2* with T450S	2.0 - 2.8	moderate	NL	28
					1 with -49T>C	0.9	severe	IT-USA	34
					1 with L423V		moderate	FR
	c.1290G>A	D430N	+ Mse I		1 with R426H	2.5	mild	USA	6
	c.1314T>C	S438P	+ Hph I	4*		1.3 - 1.7	severe	Morocco	4
	c.1341T>C	S447P	- Mbo II		1 with -49T>C		severe	NO	34
	c.1351C>G	T450S			2* with R426H	2.0 - 2.8	moderate	NL	28
	c.1357G>C	R452P	+ Ava II		2* with V364M	1.1	severe	SP	35
* siblings
** splice site

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