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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