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 |