The UMD-LDLR mutations database
Asp to Gly mutations

Variation type	Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Asp90Gly	c.269A>G	3	90	Ligand Binding 2	Ligand Binding 2	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 52 D69G - LONDON 4 Hemizygous U.K. FH class 2B 12
p.Asp100Gly	c.299A>G	3	100	Ligand Binding 2	Ligand Binding 2	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 765 D79G Heterozygous NETHERLAND 167
p.Cys129Gly	c.[385T>G; 387T>C]	4	129	Ligand Binding 3	Ligand Binding 3	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 972 D129G Female Heterozygous CHINA 189
p.Asp139Gly	c.416A>G	4	139	Ligand Binding 3	Ligand Binding 3	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 1404 Asp139Gly Heterozygous FRANCE 258
p.Asp178Gly	c.533A>G	4	178	Ligand Binding 4	Ligand Binding 4	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 881 Asp178gly SPAIN 174
p.Asp221Gly	c.662A>G	4	221	Ligand Binding 5	Ligand Binding 5	Small rearrangement	Ts	A->G	7
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 280 D200G Male Heterozygous AFRIKANER FH class 2B 95 273 D200G Heterozygous GERMANY FH class 2B 51 266 D200G Female Heterozygous SPAIN FH class 2B 79 66 D200G Male Heterozygous U.K. FH class 2B 40 387 D200G NORWAY 86 617 D200G - PADOVA Male Homozygous ITALIA 143 775 D200G Heterozygous NETHERLAND 167
p.Asp224Gly	c.671A>G	4	224	Ligand Binding 5	Ligand Binding 5	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 68 D203G - ITALY 2 Hemizygous ITALIA USA FH class 2B 12
p.Asp256Gly	c.767A>G	5	256	Ligand Binding 6	Ligand Binding 6	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 75 D235G - NEVERS Hemizygous FRANCE FH class 2B 12
p.Asp266Gly	c.797A>G	5	266	Ligand Binding 6	Ligand Binding 6	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 1061 Asp266Gly JAPAN 196
p.Asp301Gly	c.902A>G	6	301	Ligand Binding 7	Ligand Binding 7	Small rearrangement	Ts	A->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 253 D280G Heterozygous GREECE 77 426 D280G SPAIN 164
p.Asp354Gly	c.1061A>G	7-8	354	EGF-like A	EGF-like A	Small rearrangement	Ts	A->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 89 D333G - MUNSTER 2 Hemizygous GERMANY FH class 2B or 5 12 796 D333G - 167
p.Asp415Gly	c.1244A>G	9	415	EGF precursor like		Small rearrangement	Ts	A->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 451 D394G - PADOVA 3 ITALIA 165 806 D394G - 167
p.Asp492Gly	c.1475A>G	10	492	EGF precursor like		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 1016 Asp492Gly NETHERLAND 175
p.Asp579Gly	c.1736A>G	12	579	EGF precursor like		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 1425 Asp579Gly Heterozygous FRANCE 258
p.Asp700Gly	c.2099A>G	14	700	EGF-like C	EGF-like C	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 1438 Asp700Gly SPAIN 195