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Table 1 Description of the APOE variants associated with lipoprotein glomerulopathy, including cDNA change (nucleotide), protein change (amino acid position in pre-apoE), variant identification and amino acid position in mature apoE, and position in the protein domain structure

From: Lipoprotein glomerulopathy associated with the Osaka/Kurashiki APOE variant: two cases identified in Latin America

cDNA change (nucleotide) Protein change (amino acid change in the 317-residue pre-apoE) Variant identification and amino acid change in the 299-residue mature apoE Protein Domain
c.475_483del9 p.159_161delLRK 141_143del (Tokyo) Heparan sulphate proteoglycan binding site
c.480_488del9 p.160_162delRKL 142_144del (Maebashi) Heparan sulphate proteoglycan binding site
c.488G>C p.R163P R145P (Sendai) Heparan sulphate proteoglycan binding site
c.494G>C p.R165P R147P (Chicago) Heparan sulphate proteoglycan binding site
c.502C>G p.R168G R150G (Okayama) LDL receptor binding site
c.502C>T p.R168C R150C (Modena) LDL receptor binding site
c.503G>C p.R168P R150P (Guangzhou) LDL receptor binding site
c.61G>T p.R43C R25C (Kyoto) Other sites
c.394C>T p.R132C R114C (Tsukuba) Other sites
c.509C>A p.A170D A152D (Las Vegas) Other sites
c.518T > C p.L173P L155P (Chengdu) Other sites
c.520_573del p.174_191del apoE1(156-173del) Other sites
c.527G>C p.R176P R158P (Osaka/Kurashiki) Other sites
c.644 C>G p.S197C S197C (Toyonaka) Other sites
c.742G>T p.D248Y D230Y (Hong Kong) Other sites
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Diagnostic Pathology

ISSN: 1746-1596

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