Editor at 18:10, 19 July 2012

2012-07-19T18:10:28Z

@@ Line 13: / Line 13: @@
 ; Well known mutations related with Familial Hypercholesterolemia (FH)
-: [[Mutation:LDLR/Mut/1012/T-A|C317S]] in exon 7
+: [[JASReference:Funahashi_T:Yamashita_S:Maruyama_T:Ueyama_Y:Menju_M:Nagai_Y:Takemura_K:Miyake_Y:Tajima_S:Matsuzawa_Y:,J_Intern_Med,1996,239,187|LDLR/Mut/1012/T-A (exon7) C338S]]
-: [[Mutation:LDLR/Mut/2054/C-T|P664L]] in exon 14
+: [[JASReference:Soutar_AK:Knight_BL:Patel_DD:,Proc_Natl_Acad_Sci_U_S_A,1989,86,4166|
-: [[Mutation:LDLR/Mut/2431/A-T|K790X]] in exon 17
+LDLR/Mut/2054/C-T (exon14) P685L]]
 ==Statistics==
-; Registered number of mutations ... {{#expr: {{#countTitle:LDLR/Mut/|Mutation}} + {{#countTitle:LDLR/Del/|Mutation}} + {{#countTitle:LDLR/Ins/|Mutation}} + {{#countTitle:LDLR/DelIns/|Mutation}} }}
+{{JAS/MutationStat|LDLR}}
-* Single nucleotide substitution ... {{#countTitle:LDLR/Mut|Mutation}}
+* exon2-exon6 ... ligand binding domain (280 AA)
-* Deletion ... {{#countTitle:LDLR/Del|Mutation}}
+* exon7-exon14 ... 33 % identical to the human epidermal growth factor (400 AA)
-* Insertion ... {{#countTitle:LDLR/Ins|Mutation}}
+* exon15 ... O-linked sugar
-* Deletion & Insertion ... {{#countTitle:LDLR/DelIns|Mutation}}
+* exon16 ... membrane spanning
+* exon17,18 ... cytoplasmic domain
 ==Reported Mutations==
-{| class="wikitable sortable"
+{{JAS/AllMutation|LDLR}}

Editor: New page: {| class="wikitable" style="float:right" ! Other Links |- | [http://www.ncbi.nlm.nih.gov/gene/3949 NCBI Entrez Gene] |- | [http://genome.ucsc.edu/cgi-bin/hgTracks?position=LDLR UCSD Golden...

2012-07-19T15:17:17Z

New page: {| class="wikitable" style="float:right" ! Other Links |- | [http://www.ncbi.nlm.nih.gov/gene/3949 NCBI Entrez Gene] |- | [http://genome.ucsc.edu/cgi-bin/hgTracks?position=LDLR UCSD Golden...

New page

{| class="wikitable" style="float:right"
! Other Links
|-
| [http://www.ncbi.nlm.nih.gov/gene/3949 NCBI Entrez Gene]
|-
| [http://genome.ucsc.edu/cgi-bin/hgTracks?position=LDLR UCSD GoldenPath]
|}

==Low-Density Lipoprotein Receptor (LDLR)==
;Chromosomal Location: 19p13.3 ([http://www.ncbi.nlm.nih.gov/pubmed/3866240 Lindgren V et al. PNAS 1985, 82(24):8567])

LDLR is the most intensively analyzed gene in patients with primary hyperlipidemia. It has 18 exons.

; Well known mutations related with Familial Hypercholesterolemia (FH)
: [[Mutation:LDLR/Mut/1012/T-A|C317S]] in exon 7
: [[Mutation:LDLR/Mut/2054/C-T|P664L]] in exon 14
: [[Mutation:LDLR/Mut/2431/A-T|K790X]] in exon 17

==Statistics==
; Registered number of mutations ... {{#expr: {{#countTitle:LDLR/Mut/|Mutation}} + {{#countTitle:LDLR/Del/|Mutation}} + {{#countTitle:LDLR/Ins/|Mutation}} + {{#countTitle:LDLR/DelIns/|Mutation}} }}
* Single nucleotide substitution ... {{#countTitle:LDLR/Mut|Mutation}}
* Deletion ... {{#countTitle:LDLR/Del|Mutation}}
* Insertion ... {{#countTitle:LDLR/Ins|Mutation}}
* Deletion & Insertion ... {{#countTitle:LDLR/DelIns|Mutation}}

; Mutation at each exon
{| class="wikitable" style="text-align:center"
!
!colspan="5"|ligand binding domain (280 AA)
!colspan="8"|33 % identical to the human epidermal growth factor (400 AA)
!O-linked sugar
!membrane spanning
!colspan="2"|cytoplasmic domain
|-
| ex1 || ex2 || ex3 || ex4 || ex5 || ex6 || ex7 || ex8 || ex9 || ex10 || ex11 || ex12 || ex13 || ex14 || ex15 || ex16 || ex17 || ex18
|-
| {{#CountLine:^_position=exon1$|Mutation|LDLR/_%}}
| {{#CountLine:position=exon2|Mutation|LDLR/_%}}
| {{#CountLine:position=exon3|Mutation|LDLR/_%}}
| {{#CountLine:position=exon4|Mutation|LDLR/_%}}
| {{#CountLine:position=exon5|Mutation|LDLR/_%}}
| {{#CountLine:position=exon6|Mutation|LDLR/_%}}
| {{#CountLine:position=exon7|Mutation|LDLR/_%}}
| {{#CountLine:position=exon8|Mutation|LDLR/_%}}
| {{#CountLine:position=exon9|Mutation|LDLR/_%}}
| {{#CountLine:position=exon10|Mutation|LDLR/_%}}
| {{#CountLine:position=exon11|Mutation|LDLR/_%}}
| {{#CountLine:position=exon12|Mutation|LDLR/_%}}
| {{#CountLine:position=exon13|Mutation|LDLR/_%}}
| {{#CountLine:position=exon14|Mutation|LDLR/_%}}
| {{#CountLine:position=exon15|Mutation|LDLR/_%}}
| {{#CountLine:position=exon16|Mutation|LDLR/_%}}
| {{#CountLine:position=exon17|Mutation|LDLR/_%}}
| {{#CountLine:position=exon18|Mutation|LDLR/_%}}
|}

; Mutation at introns ... {{#CountLine:position=intron|Mutation|LDLR/_%}}

==Reported Mutations==
{| class="wikitable sortable"
|+
!Page
!Position
!Structure
!Mutation
!Name
!Nucleotide change
!Effect on coding sequence
!Class
!Author
!Reference
{{#repeat:JAS/Mutation/Table/Row|1|
{{#SearchTitle:LDLR/|Mutation}}
}}
|}

JAS:Genes/LDLR - Revision history

Editor at 18:10, 19 July 2012

Editor: New page: {| class="wikitable" style="float:right" ! Other Links |- | [http://www.ncbi.nlm.nih.gov/gene/3949 NCBI Entrez Gene] |- | [http://genome.ucsc.edu/cgi-bin/hgTracks?position=LDLR UCSD Golden...