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| Title | Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population |
| Author(s) |
(Click a name to see records for each author.) |
| Journal |
Atherosclerosis (19 pages) |
| Year | 2002 |
| Volume | 165 |
| Page | 335 |
Genetic mutations in this article
| [hide]Reported Mutations (notation help)
|
| Gene |
Mutation |
Effect |
Position
|
Original Information in the Paper |
Reference
|
| LDLR
|
Mut/131/G-A
|
W44X
|
exon2
|
Mut/131/G-A
|
W23X
|
exon2
|
This page
|
| LDLR
|
Mut/137/G-A
|
C46Y
|
exon2
|
Mut/137/G-A
|
C25Y
|
exon2
|
This page
|
| LDLR
|
Del/230/G
|
G77AfsX53
|
exon3
|
Del/230/G
|
G56fsX53
|
exon3
|
This page
|
| LDLR
|
Mut/244/G-T
|
C82F
|
exon3
|
Mut/244/G-T
|
C61F
|
exon3
|
This page
|
| LDLR
|
Mut/288/G-T
|
C95F
|
exon3
|
Mut/288/G-T
|
C74F
|
exon3
|
This page
|
| LDLR
|
Mut/361/T-G
|
C121G
|
exon4
|
Mut/361/T-G
|
C100G
|
exon4
|
This page
|
| LDLR
|
Mut/388/T-A
|
S130T
|
exon4
|
Mut/388/T-A
|
S109T
|
exon4
|
This page
|
| LDLR
|
Ins/389/C
|
S130fsX50
|
exon4
|
Ins/389/C
|
S109fsX50
|
exon4
|
This page
|
| LDLR
|
Mut/463/T-C
|
C155R
|
exon4
|
Mut/463/T-C
|
C134R
|
exon4
|
This page
|
| LDLR
|
Mut/478/T-C
|
C160R
|
exon4
|
Mut/478/T-C
|
C139R
|
exon4
|
This page
|
| LDLR
|
Mut/550/T-C
|
C184R
|
exon4
|
Mut/550/T-C
|
C163R
|
exon4
|
This page
|
| LDLR
|
Mut/565/G-A
|
V189M
|
exon4
|
Mut/565/G-A
|
V168M
|
exon4
|
This page
|
| LDLR
|
Mut/611/G-C
|
C204S
|
exon4
|
Mut/611/G-C
|
C183S
|
exon4
|
This page
|
| LDLR
|
Mut/796/G-A
|
D266N
|
exon5
|
Mut/796/G-A
|
D245N
|
exon5
|
This page
|
| LDLR
|
Mut/797/A-G
|
D266G
|
exon5
|
Mut/797/A-G
|
D245G
|
exon5
|
This page
|
| LDLR
|
Mut/901/G-T
|
D301Y
|
exon6
|
Mut/901/G-T
|
D280Y
|
exon6
|
This page
|
| LDLR
|
Mut/1048/C-T
|
R340X
|
exon7
|
Mut/1048/C-T
|
R329X
|
exon7
|
This page
|
| LDLR
|
Ins/1061/T
|
D354fsX4
|
exon8
|
Ins/1061/T
|
D333fsX4
|
exon8
|
This page
|
| LDLR
|
Mut/1252/G-A
|
E418K
|
exon9
|
Mut/1252/G-A
|
E397K
|
exon9
|
This page
|
| LDLR
|
Mut/1567/G-A
|
V523M
|
exon10
|
Mut/1567/G-A
|
V502M
|
exon10
|
This page
|
| LDLR
|
Mut/1587-1/G-A
|
3'splice_acceptor_mutation
|
intron10
|
|
|
|
This page
|
| LDLR
|
Del/1871/TCA
|
I624del
|
exon13
|
Del/1871/TCA
|
I603del
|
exon13
|
This page
|
| LDLR
|
Mut/1925/T-C
|
L642S
|
exon13
|
Mut/1925/T-C
|
L621S
|
exon13
|
This page
|
| LDLR
|
Mut/2026/G-A
|
G676S
|
exon14
|
Mut/2026/G-A
|
G655S
|
exon14
|
This page
|
| LDLR
|
Del/2055/G
|
P685fsX24
|
exon14
|
Del/2055/G
|
P664fsX24
|
exon14
|
This page
|
| LDLR
|
Mut/2312-3/C-A
|
3'splice_acceptor_mutation
|
intron15
|
|
|
|
This page
|
| LDLR
|
Ins/2416/G
|
V806fsX11
|
exon17
|
2416/G
|
V785fsX11
|
exon17
|
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。
|
