PMID: 35628605

APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia.

International journal of molecular sciences
Abou Khalil, Yara Y, Marmontel, Oriane O, Ferrières, Jean J, Paillard, François F, Yelnik, Cécile C, Carreau, Valérie V, Charrière, Sybil S, Bruckert, Eric E, Gallo, Antonio A, Giral, Philippe P, Philippi, Anne A, Bluteau, Olivier O, Boileau, Catherine C, Abifadel, Marianne M, Di-Filippo, Mathilde M, Carrié, Alain A, Rabès, Jean-Pierre JP, Varret, Mathilde M
2022-05-21

37 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-45411042-G-A APOE c.69G>A p.A23= Synonymous 3/4 -
19-45411858-C-G APOE c.305C>G p.P102R Missense 4/4 -
19-45411858-C-T APOE c.305C>T p.P102L Missense 4/4 -
19-45411963-G-A APOE c.410G>A p.R137H Missense 4/4 -
19-45412532-C-T APOE c.*25C>T - 3-UTRSNV 4/4 -
19-45409935-G-A APOE c.43+11G>A - IntronicSNV - 2/3
19-45409912-A-G APOE c.31A>G p.T11A Missense 2/4 -
19-45412048-GCTC-G APOE c.500_502delTCC p.L167del InFrameDeletion 4/4 -
2-21229160-C-T APOB c.10580G>A p.R3527Q Missense 26/29 -
19-45411110-T-C APOE c.137T>C p.L46P Missense 3/4 -
19-45412040-C-T APOE c.487C>T p.R163C Missense 4/4 -
19-45411802-C-T APOE c.249C>T p.D83= Synonymous 4/4 -
19-45411962-C-T APOE c.409C>T p.R137C Missense 4/4 -
20-3063337-C-T AVP c.434G>A p.R145Q Missense 3/3 -
20-3063308-G-A AVP c.463C>T p.P155S Missense 3/3 -
19-45412070-C-T APOE c.517C>T p.L173= Synonymous 4/4 -
8-133885364-C-T TG c.536C>T p.S179L Missense 5/48 -
19-45412108-C-G APOE c.555C>G p.R185= Synonymous 4/4 -
19-45412191-T-A APOE c.638T>A p.V213E Missense 4/4 -
19-45412204-C-G APOE c.651C>G p.A217= Synonymous 4/4 -
19-45412205-G-T APOE c.652G>T p.G218C Missense 4/4 -
19-45412298-G-A APOE c.745G>A p.E249K Missense 4/4 -
19-45412307-G-A APOE c.754G>A p.E252K Missense 4/4 -
19-45412089-T-C APOE c.536T>C p.V179A Missense 4/4 -
19-49218088-TGAA-T MAMSTR c.500_502delTTC p.L167del InFrameDeletion 6/10 -
19-45409923-A-AGCT APOE c.43_43+1insCTG p.A14dup SpliceDonorInsertion - -
20-3063323-CCAG-C AVP c.445_447delCTG p.L149del InFrameDeletion 3/3 -
19-45412016-C-T APOE c.463C>T p.L155F Missense 4/4 -
20-3065252-C-T AVP c.69G>A p.Q23= Synonymous 1/3 -
20-3063361-C-T AVP c.410G>A p.G137E Missense 3/3 -
19-45411941-T-C APOE c.388T>C p.C130R Missense 4/4 -
19-45412079-C-T APOE c.526C>T p.R176C Missense 4/4 -
19-45412358-C-G APOE c.805C>G p.R269G Missense 4/4 -
19-11231112-C-T LDLR c.2054C>T p.P685L Missense 14/18 -
1-241682940-AA-GG FH c.82_83delTTinsCC p.L28P Missense 1/10 -
19-45411041-C-T APOE c.68C>T p.A23V Missense 3/4 -
19-45411987-G-A APOE c.434G>A p.G145D Missense 4/4 -