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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 |
| Author(s) |
(Click a name to see records for each author.) |
| Journal |
Atherosclerosis (19 pages) |
| Year | 2009 |
| Volume | 203 |
| Page | 153 |
Genetic mutations in this article
| [hide]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
|
|
How to input/edit information?
- 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
The format of the page title is here. The format of mutation information is here.
|
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。
|
