JASReference:Miyake Y:Yamamura T:Sakai N:Miyata T:Kokubo Y:Yamamoto A:,Atherosclerosis,2009,203,153

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Title Update of Japanese common LDLR gene mutations and their phenotypes: Mild type mutation L547V might predominate in the Japanese population
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Journal Atherosclerosis     
(19 pages)
Year 2009
Volume 203
Page 153

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
LDLR Mut/-137/C-T - promoter This page
LDLR Mut/-134/C-T - promoter This page
LDLR Del/Ex1/Ex1 - exon1 This page
LDLR Mut/1/A-C M1L exon1 Mut/1/A-C M-21L exon1 This page
LDLR Del/20/AA K7IfsX21 exon1 Del/20/AA K-15IfsX21 exon1 This page
LDLR Mut/29/G-A W10X exon1 Mut/29/G-A W-12X exon1 This page
LDLR Del/Ex2-6/Ex2-6 - exon2-6 This page
LDLR Mut/283/T-G C95G exon3 Mut/283/T-G C74G exon3 This page
LDLR Mut/301/G-A E101K exon3 Mut/301/G-A E80K exon3 This page
LDLR Mut/401/G-T C134F exon4 Mut/401/G-T C113F exon4 This page
LDLR Mut/500/G-A C167Y exon4 Mut/500/G-A C146Y exon4 This page
LDLR Mut/666/C-A C222X exon4 Mut/666/C-A C201X  exon4 This page
LDLR Dup/667/15 K223-D227dup exon4 Dup/667/15 K202-D206dup exon4 This page
LDLR Mut/681/C-A D227E exon4 Mut/681/C-A D206E exon4 This page
LDLR Mut/682/G-A E228K exon4 Mut/682/G-A E207K exon4 This page
LDLR Del/Ex5/Ex5 - exon5 This page
LDLR Mut/828/C-A C276X exon6 Mut/828/C-A C255X exon6 This page
LDLR Mut/883/G-T V295F exon6 Mut/883/G-T V274F exon6 This page
LDLR Mut/1028/G-T G343V exon7 Mut/1028/G-T G322V exon7 This page
LDLR Ins/1062/T I355fsX3 exon8 Ins/1062/T I334fsX3 exon8 This page
LDLR Mut/1069/G-T E357X exon8 Mut/1069/G-T E357X exon8 This page
LDLR Dup/1107/5 L371fsX44 exon8 Dup/1107/5 L371fsX44 exon8 This page
LDLR Del/1111/21 L371-C377del exon8 Del/1111/21 L350-C356del exon8 This page
LDLR Mut/1265/T-G L422R exon9 Mut/1265/T-G L401R exon9 This page
LDLR Del/Ex9-10/Ex9-10 - exon9-10 This page
LDLR Mut/1562/C-T A521V exon10 Mut/1562/C-T A500V exon10 This page
LDLR Mut/1618/G-A A530T exon11 Mut/1618/G-A A519T exon11 This page
LDLR Mut/1691/A-G N564S exon11 Mut/1691/A-G N543S exon11 This page
LDLR Mut/1845+1/G-A 5'splice_donor_mutation intron12 This page
LDLR Del/Ex13-15/Ex13-15 - exon13-15 This page
LDLR Del/Ex13-18/Ex13-18 - exon13-18 This page
LDLR Del/Ex16-17/4k - exon16-17 This page
LDLR Mut/2042/G-C C681S exon14 Mut/2042/G-C C660S exon14 This page
LDLR Mut/2087/G-T C696F exon14 Mut/2087/G-T C675F exon14 This page
LDLR Del/2102/G G701fsX8 exon14 Del/2102/G G680fsX8 exon14 This page
LDLR Mut/2389/G-A V797M exon16 Mut/2389/G-A V776M exon16 This page


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Account Information

This database is maintained by the subcommittee for Lipid Metabolism in Japan Atherosclerosis Society. If you volunteer to contribute, please contact arita AT k.u-tokyo.ac.jp.

このデータベースは日本動脈硬化学会 脂質代謝部会が作成しています。入力等に協力していただける方は有田 arita AT k.u-tokyo.ac.jp までご連絡下さい。

Format of the page

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ページタイトルの書式(書き方)はここにあります。遺伝子変異情報の書式(書き方)はここにあります。