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

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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

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	LDLR/Mut/1/A-C	M-21L	exon1	This page
LDLR	Del/20/AA	K7IfsX21	exon1	LDLR/Del/20/AA	K-15IfsX21	exon1	This page
LDLR	Mut/29/G-A	W10X	exon1	LDLR/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	LDLR/Mut/283/T-G	C74G	exon3	This page
LDLR	Mut/301/G-A	E101K	exon3	LDLR/Mut/301/G-A	E80K	exon3	This page
LDLR	Mut/401/G-T	C134F	exon4	LDLR/Mut/401/G-T	C113F	exon4	This page
LDLR	Mut/500/G-A	C167Y	exon4	LDLR/Mut/500/G-A	C146Y	exon4	This page
LDLR	Mut/666/C-A	C222X	exon4	LDLR/Mut/666/C-A	C201X	exon4	This page
LDLR	Dup/667/15	K223-D227dup	exon4	LDLR/Dup/667/15	K202-D206dup	exon4	This page
LDLR	Mut/681/C-A	D227E	exon4	LDLR/Mut/681/C-A	D206E	exon4	This page
LDLR	Mut/682/G-A	E228K	exon4	LDLR/Mut/682/G-A	E207K	exon4	This page
LDLR	Del/Ex5/Ex5	-	exon5				This page
LDLR	Mut/828/C-A	C276X	exon6	LDLR/Mut/828/C-A	C255X	exon6	This page
LDLR	Mut/883/G-T	V295F	exon6	LDLR/Mut/883/G-T	V274F	exon6	This page
LDLR	Mut/1028/G-T	G343V	exon7	LDLR/Mut/1028/G-T	G322V	exon7	This page
LDLR	Ins/1062/T	I355fsX3	exon8	LDLR/Ins/1062/T	I334fsX3	exon8	This page
LDLR	Mut/1069/G-T	E357X	exon8	LDLR/Mut/1069/G-T	E357X	exon8	This page
LDLR	Dup/1107/5	L371fsX44	exon8	LDLR/Dup/1107/5	L371fsX44	exon8	This page
LDLR	Del/1111/21	L371-C377del	exon8	LDLR/Del/1111/21	L371-C377del	exon8	This page
LDLR	Mut/1265/T-G	L422R	exon9	LDLR/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	LDLR/Mut/1562/C-T	A500V	exon10	This page
LDLR	Mut/1618/G-A	A530T	exon11	LDLR/Mut/1618/G-A	A519T	exon11	This page
LDLR	Mut/1691/A-G	N564S	exon11	LDLR/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	Mut/2042/G-C	C681S	exon14	LDLR/Mut/2042/G-C	C660S	exon14	This page
LDLR	Mut/2087/G-T	C696F	exon14	LDLR/Mut/2087/G-T	C675F	exon14	This page
LDLR	Del/2102/G	G701fsX8	exon14	LDLR/Del/2102/G	G680fsX8	exon14	This page
LDLR	Mut/2389/G-A	V797M	exon16	LDLR/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。

@@ Line 3: / Line 3: @@
 &&LDLR/Mut/-134/C-T&&-&&promoter
 &&LDLR/Del/Ex1/Ex1&&-&&exon1
-&&LDLR/Mut/1/A-C&&M1L&&exon1
+&&LDLR/Mut/1/A-C&&M1L&&exon1&&LDLR/Mut/1/A-C&&M-21L&&exon1
-&&LDLR/Del/20/AA&&K7IfsX21&&exon1
+&&LDLR/Del/20/AA&&K7IfsX21&&exon1&&LDLR/Del/20/AA&&K-15IfsX21&&exon1
-&&LDLR/Mut/29/G-A&&W10X&&exon1
+&&LDLR/Mut/29/G-A&&W10X&&exon1&&LDLR/Mut/29/G-A&&W-12X&&exon1
 &&LDLR/Del/Ex2-6/Ex2-6&&-&&exon2-6
-&&LDLR/Mut/283/T-G&&C95G&&exon3
+&&LDLR/Mut/283/T-G&&C95G&&exon3&&LDLR/Mut/283/T-G&&C74G&&exon3
-&&LDLR/Mut/301/G-A&&E101K&&exon3
+&&LDLR/Mut/301/G-A&&E101K&&exon3&&LDLR/Mut/301/G-A&&E80K&&exon3
-&&LDLR/Mut/401/G-T&&C134F&&exon4
+&&LDLR/Mut/401/G-T&&C134F&&exon4&&LDLR/Mut/401/G-T&&C113F&&exon4
-&&LDLR/Mut/500/G-A&&C167Y&&exon4
+&&LDLR/Mut/500/G-A&&C167Y&&exon4&&LDLR/Mut/500/G-A&&C146Y&&exon4
-&&LDLR/Mut/666/C-A&&C222X&&exon4
+&&LDLR/Mut/666/C-A&&C222X&&exon4&&LDLR/Mut/666/C-A&&C201X &&exon4
-&&LDLR/Dup/667/15&&K223-D227dup&&exon4
+&&LDLR/Dup/667/15&&K223-D227dup&&exon4&&LDLR/Dup/667/15&&K202-D206dup&&exon4
-&&LDLR/Mut/681/C-A&&D227E&&exon4
+&&LDLR/Mut/681/C-A&&D227E&&exon4&&LDLR/Mut/681/C-A&&D206E&&exon4
-&&LDLR/Mut/682/G-A&&E228K&&exon4
+&&LDLR/Mut/682/G-A&&E228K&&exon4&&LDLR/Mut/682/G-A&&E207K&&exon4
 &&LDLR/Del/Ex5/Ex5&&-&&exon5
-&&LDLR/Mut/828/C-A&&C276X&&exon6
+&&LDLR/Mut/828/C-A&&C276X&&exon6&&LDLR/Mut/828/C-A&&C255X&&exon6
-&&LDLR/Mut/883/G-T&&V295F&&exon6
+&&LDLR/Mut/883/G-T&&V295F&&exon6&&LDLR/Mut/883/G-T&&V274F&&exon6
-&&LDLR/Mut/1028/G-T&&G343V&&exon7
+&&LDLR/Mut/1028/G-T&&G343V&&exon7&&LDLR/Mut/1028/G-T&&G322V&&exon7
-&&LDLR/Ins/1062/T&&I355fsX3&&exon8
+&&LDLR/Ins/1062/T&&I355fsX3&&exon8&&LDLR/Ins/1062/T&&I334fsX3&&exon8
-&&LDLR/Mut/1069/G-T&&E357X&&exon8
+&&LDLR/Mut/1069/G-T&&E357X&&exon8&&LDLR/Mut/1069/G-T&&E357X&&exon8
-&&LDLR/Dup/1107/5&&L371fsX44&&exon8
+&&LDLR/Dup/1107/5&&L371fsX44&&exon8&&LDLR/Dup/1107/5&&L371fsX44&&exon8
-&&LDLR/Del/1111/21&&L371-C377del&&exon8
+&&LDLR/Del/1111/21&&L371-C377del&&exon8&&LDLR/Del/1111/21&&L371-C377del&&exon8
-&&LDLR/Mut/1265/T-G&&L422R&&exon9
+&&LDLR/Mut/1265/T-G&&L422R&&exon9&&LDLR/Mut/1265/T-G&&L401R&&exon9
-&&LDLR/Mut/1691/A-G&&N564S&&exon11
 &&LDLR/Del/Ex9-10/Ex9-10&&-&&exon9-10
-&&LDLR/Mut/1562/C-T&&A521V&&exon10
+&&LDLR/Mut/1562/C-T&&A521V&&exon10&&LDLR/Mut/1562/C-T&&A500V&&exon10
-&&LDLR/Mut/1618/G-A&&A530T&&exon11
+&&LDLR/Mut/1618/G-A&&A530T&&exon11&&LDLR/Mut/1618/G-A&&A519T&&exon11
+&&LDLR/Mut/1691/A-G&&N564S&&exon11&&LDLR/Mut/1691/A-G&&N543S&&exon11
 &&LDLR/Mut/1845+1/G-A&&5'splice_donor_mutation&&intron12
 &&LDLR/Del/Ex13-15/Ex13-15&&-&&exon13-15
 &&LDLR/Del/Ex13-18/Ex13-18&&-&&exon13-18
-&&LDLR/Mut/2042/G-C&&C681S&&exon14
+&&LDLR/Mut/2042/G-C&&C681S&&exon14&&LDLR/Mut/2042/G-C&&C660S&&exon14
-&&LDLR/Mut/2087/G-T&&C696F&&exon14
+&&LDLR/Mut/2087/G-T&&C696F&&exon14&&LDLR/Mut/2087/G-T&&C675F&&exon14
-&&LDLR/Del/2102/G&&G701fsX8&&exon14
+&&LDLR/Del/2102/G&&G701fsX8&&exon14&&LDLR/Del/2102/G&&G680fsX8&&exon14
-&&LDLR/Mut/2389/G-A&&V797M&&exon16
+&&LDLR/Mut/2389/G-A&&V797M&&exon16&&LDLR/Mut/2389/G-A&&V776M&&exon16
-&&LDLR/Mut/1/A-C&&M-21L&&exon1
-&&LDLR/Del/20/AA&&K-15IfsX21&&exon1
-&&LDLR/Mut/29/G-A&&W-12X&&exon1
-&&LDLR/Mut/283/T-G&&C74G&&exon3
-&&LDLR/Mut/301/G-A&&E80K&&exon3
-&&LDLR/Mut/401/G-T&&C113F&&exon4
-&&LDLR/Mut/500/G-A&&C146Y&&exon4
-&&LDLR/Mut/666/C-A&&C201X &&exon4
-&&LDLR/Dup/667/15&&K202-D206dup&&exon4
-&&LDLR/Mut/681/C-A&&D206E&&exon4
-&&LDLR/Mut/682/G-A&&E207K&&exon4
-&&LDLR/Mut/828/C-A&&C255X&&exon6
-&&LDLR/Mut/883/G-T&&V274F&&exon6
-&&LDLR/Mut/1028/G-T&&G322V&&exon7
-&&LDLR/Ins/1062/T&&I334fsX3&&exon8
-&&LDLR/Mut/1069/G-T&&E357X&&exon8
-&&LDLR/Dup/1107/5&&L371fsX44&&exon8
-&&LDLR/Del/1111/21&&L371-C377del&&exon8
-&&LDLR/Mut/1265/T-G&&L401R&&exon9
-&&LDLR/Mut/1691/A-G&&N543S&&exon11
-&&LDLR/Mut/1562/C-T&&A500V&&exon10
-&&LDLR/Mut/1618/G-A&&A519T&&exon11
-&&LDLR/Mut/2042/G-C&&C660S&&exon14
-&&LDLR/Mut/2087/G-T&&C675F&&exon14
-&&LDLR/Del/2102/G&&G680fsX8&&exon14
-&&LDLR/Mut/2389/G-A&&V776M&&exon16
 |title=Update of Japanese common LDLR gene mutations and their phenotypes: Mild type mutation L547V might predominate in the Japanese population
 |doi=10.1016/j.atherosclerosis.2008.07.005
 |pmid=18718593
 }}

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

Revision as of 06:08, 27 March 2013

Details

Genetic mutations in this article

How to input/edit information?

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