Mutation:LDLR

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; Well known mutations related with Familial Hypercholesterolemia (FH)
 
; Well known mutations related with Familial Hypercholesterolemia (FH)
−
: [[JAS:Mutation/LDLR/Mut/1012/T-A|C317S]] in exon 7
+
: [[Mutation:LDLR/Mut/1012/T-A|C317S]] in exon 7
−
: [[JAS:Mutation/LDLR/Mut/2054/C-T|P664L]] in exon 14
+
: [[Mutation:LDLR/Mut/2054/C-T|P664L]] in exon 14
−
: [[JAS:Mutation/LDLR/Mut/2431/A-T|K790X]] in exon 17
+
: [[Mutation:LDLR/Mut/2431/A-T|K790X]] in exon 17
  
 
==Statistics==
 
==Statistics==
−
; Registered number of mutations ... {{#expr: {{#countTitle:JAS:Mutation/LDLR/Mut/}} + {{#countTitle:JAS:Mutation/LDLR/Del/}} + {{#countTitle:JAS:Mutation/LDLR/Ins/}} + {{#countTitle:JAS:Mutation/LDLR/DelIns/}} }}
+
; 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:JAS:Mutation/LDLR/Mut}}
+
* Single nucleotide substitution ... {{#countTitle:LDLR/Mut|Mutation}}
−
* Deletion ... {{#countTitle:JAS:Mutation/LDLR/Del}}
+
* Deletion ... {{#countTitle:LDLR/Del|Mutation}}
−
* Insertion ... {{#countTitle:JAS:Mutation/LDLR/Ins}}
+
* Insertion ... {{#countTitle:LDLR/Ins|Mutation}}
−
* Deletion & Insertion ... {{#countTitle:JAS:Mutation/LDLR/DelIns}}
+
* Deletion & Insertion ... {{#countTitle:LDLR/DelIns|Mutation}}
  
 
; Mutation at each exon
 
; Mutation at each exon
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| ex1 || ex2 || ex3 || ex4 || ex5 || ex6 || ex7 || ex8 || ex9 || ex10 || ex11 || ex12 || ex13 || ex14 || ex15 || ex16 || ex17 || ex18
 
| ex1 || ex2 || ex3 || ex4 || ex5 || ex6 || ex7 || ex8 || ex9 || ex10 || ex11 || ex12 || ex13 || ex14 || ex15 || ex16 || ex17 || ex18
 
|-
 
|-
−
| {{#CountLine:position=exon1$||JAS:Mutation/LDLR/_%}}
+
| {{#CountLine:^_position=exon1$|Mutation|LDLR/_%}}
−
| {{#CountLine:position=exon2||JAS:Mutation/LDLR/_%}}
+
| {{#CountLine:position=exon2|Mutation|LDLR/_%}}
−
| {{#CountLine:position=exon3||JAS:Mutation/LDLR/_%}}
+
| {{#CountLine:position=exon3|Mutation|LDLR/_%}}
−
| {{#CountLine:position=exon4||JAS:Mutation/LDLR/_%}}
+
| {{#CountLine:position=exon4|Mutation|LDLR/_%}}
−
| {{#CountLine:position=exon5||JAS:Mutation/LDLR/_%}}
+
| {{#CountLine:position=exon5|Mutation|LDLR/_%}}
−
| {{#CountLine:position=exon6||JAS:Mutation/LDLR/_%}}
+
| {{#CountLine:position=exon6|Mutation|LDLR/_%}}
−
| {{#CountLine:position=exon7||JAS:Mutation/LDLR/_%}}
+
| {{#CountLine:position=exon7|Mutation|LDLR/_%}}
−
| {{#CountLine:position=exon8||JAS:Mutation/LDLR/_%}}
+
| {{#CountLine:position=exon8|Mutation|LDLR/_%}}
−
| {{#CountLine:position=exon9||JAS:Mutation/LDLR/_%}}
+
| {{#CountLine:position=exon9|Mutation|LDLR/_%}}
−
| {{#CountLine:position=exon10||JAS:Mutation/LDLR/_%}}
+
| {{#CountLine:position=exon10|Mutation|LDLR/_%}}
−
| {{#CountLine:position=exon11||JAS:Mutation/LDLR/_%}}
+
| {{#CountLine:position=exon11|Mutation|LDLR/_%}}
−
| {{#CountLine:position=exon12||JAS:Mutation/LDLR/_%}}
+
| {{#CountLine:position=exon12|Mutation|LDLR/_%}}
−
| {{#CountLine:position=exon13||JAS:Mutation/LDLR/_%}}
+
| {{#CountLine:position=exon13|Mutation|LDLR/_%}}
−
| {{#CountLine:position=exon14||JAS:Mutation/LDLR/_%}}
+
| {{#CountLine:position=exon14|Mutation|LDLR/_%}}
−
| {{#CountLine:position=exon15||JAS:Mutation/LDLR/_%}}
+
| {{#CountLine:position=exon15|Mutation|LDLR/_%}}
−
| {{#CountLine:position=exon16||JAS:Mutation/LDLR/_%}}
+
| {{#CountLine:position=exon16|Mutation|LDLR/_%}}
−
| {{#CountLine:position=exon17||JAS:Mutation/LDLR/_%}}
+
| {{#CountLine:position=exon17|Mutation|LDLR/_%}}
−
| {{#CountLine:position=exon18||JAS:Mutation/LDLR/_%}}
+
| {{#CountLine:position=exon18|Mutation|LDLR/_%}}
 
|}
 
|}
  
−
; Mutation at introns ... {{#CountLine:position=intron||JAS:Mutation/LDLR/_%}}
+
; Mutation at introns ... {{#CountLine:position=intron|Mutation|LDLR/_%}}
  
 
==Reported Mutations==
 
==Reported Mutations==
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!Reference
 
!Reference
 
{{#repeat:JAS/Mutation/Table/Row|1|
 
{{#repeat:JAS/Mutation/Table/Row|1|
−
{{#SearchTitle:Mutation/LDLR/|}}
+
{{#SearchTitle:LDLR/|Mutation}}
 
}}
 
}}
 
|}
 
|}

Latest revision as of 01:35, 16 July 2011

Other Links
NCBI Entrez Gene
UCSD GoldenPath

[edit] Low-Density Lipoprotein Receptor (LDLR)

Chromosomal Location
19p13.3 (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)
C317S in exon 7
P664L in exon 14
K790X in exon 17

[edit] Statistics

Registered number of mutations ... 73
  • Single nucleotide substitution ... 47
  • Deletion ... 18
  • Insertion ... 8
  • Deletion & Insertion ... 1
Mutation at each exon
ligand binding domain (280 AA) 33 % identical to the human epidermal growth factor (400 AA) O-linked sugar membrane spanning cytoplasmic domain
ex1 ex2 ex3 ex4 ex5 ex6 ex7 ex8 ex9 ex10 ex11 ex12 ex13 ex14 ex15 ex16 ex17 ex18
0 7 5 12 2 1 5 4 7 2 3 3 3 5 4 3 2 0
Mutation at introns ... 5

[edit] Reported Mutations

Page Position Structure Mutation Name Nucleotide change Effect on coding sequence Class Author Reference
1655/T T exon16 1655delT deletion of T at 1655 frame shift after Asp 530 NR --
1867/3 3 exon13 1867delATC deletion of ATC at 1867-1869 deletion of Ile at 602 NR Yu W
1963/T T exon13 1963delT deletion of T at 1963 frame shift class 1 Hirayama T
2055/G G exon14 2055delG deletion of G at 2055 frame shift NR Yu W
2199/2 2 exon15 2199delCA Mishima deletion of CA at 2199 or 2201 frame shift afgter Thr 713 NR Tashiro J
230/G G exon3 230delG deletion of G at 230 frame shift NR Yu W
355/7 7 exon4 355del7bp deletion of GGGAAGT at 355 premature stop at codon 183 NR Hattori H
Ex7-In14/13k 13k exon7-14 Ex7-In14 del Okayama deletion of 13kb deletion of exons 8-14 NR Kajinami K
In1-In3/10k 10k exon2-3 In1-In3 del onami-2 deletion of 10kb deletion of exons 2,3 class 3 Kajinami K
In1-In3/4k 4k exon2-3 In1-In3 del deletion of 4kb deletion of exons 2,3 class 3 Yamakawa K
In1-In3/5k 5k exon2-3 In1-In3 del deletion of 5kb deletion of exons 2,3 NR Kigawa K
In1-In4/12k 12k exon2-4 In1-In4 del Kanazawa-1 deletion of 12kb deletion of exons 2-4 NR Kajinami K
In14-In15/6k 6k exon15 In14-In15 del Tonami-1 deletion of 6kb deletion of exon 15 NR Kajinami K
In14-In16/5.5k 5.5k exon15-16 In14-In16 del deletion of 5.5 kb deletion of exons 15,16 NR Yamakawa K
In15-In17/4k 4k exon16-17 In15-In17 del deletion of 4kb deletion of exons 16, 17 NR Yamakawa K
In15-In18/7.8k 7.8k exon16-18 In15-In18 del Osaka 1 deletion of 7.8 kb deletion of exons 16-18 class 4B Miyake Y
In6-In14/12k 12k exon7-14 In6-In14 del Osaka-2 deletion of 12kb deletion of exons 8-14 class 5 Miyake Y
1115/9-6 9-6 exon8 1115del9bp,ins6bp deletion of 9 bp
insertion of 6 bp from 1115 		GlyGlyGlyTry → AlaLeuAsn at 351 NR Yamakawa K
1061/T T exon8 1061InsT insertion of T at 1061 frame shift NR Yu W
1246/5 5 exon9 1246ins5bp insertion of 5 bp at 1246 frame shift after Arg395 NR Varret M
1687/C C exon11 1687insC insertion of C at 1687 premature stop at codon 559 NR Hattori H
1773/G G exon12 1773insG insertion of G at 1773 frame shift class 1 Hirayama T
2035/T T exon14 2035insT insertion of T at 2035 premature stop at codon 696 NR Hattori H
2412/G G exon17 2412insG insertion of G after 2412 frame shift after Gly 784 NR Miyake Y
327/C C exon4 327insC insertion of C at 327 premature stop at codon 158 NR Hirota R
389/C C exon4 389insC insertion of C at 389 frame shift NR Yu W
1012/T-A T-A exon7 C317S Wakayama 1012 T-A cys → Ser at 317 class 2 Funahashi T
1012/T-C T-C exon7 C317R Gifu 1012 T-C cys → Arg at 317 NR Varret M
1048/C-T C-T exon7 R329X Gifu 1048 C-T Arg → Stop at 329 NR Yu W
1066/G-C G-C exon8 D335H Kanagawa 1066 G-C Asp → His at 335 NR Varret M
1136/G-A G-A exon8 C358Y 1136 G-A Cys → Tyr at 358 class 5 Hirayama T
1207/T-A T-A exon9 F382L 1207 T-A Phe → Leu at 382 NR Varret M
1246/C-T C-T exon9 R395W Morioka 1246 C-T Arg → Trp at 395 defective Yagi K
1252/G-A G-A exon9 E397K 1252 G-A Glu → Lys at 397 NR Yu W
1285/G-A G-A exon9 V408M Afrikaner-2 1285 G-A Val → Met at 408 NR Varret M
1291/G-A G-A exon9 A410T 1291 G-A Ala → Thr at 410 NR Hattori H
1297/G-C G-C exon9 D412H Osaka-3 1297 G-C Asp → His at 412 class 2 Miyake Y
132/G-A G-A exon2 W23X nanao 132 G-A Trp → Stop at 23 NR Yu W
137/G-A G-A exon2 C25Y 137 G-A Cys → Try at 25 NR Yu W
139/G-A G-A exon2 D26N 139 G-A Asp → Asn at 26 NR Varret M
1502/C-A C-A exon10 A480E 1502 C-A Ala → Glu at 480 class 2B Miyake Y
1567/G-A G-A exon10 V502M 1567 G-A Val → Met at 502 class 2A Yu W
1587-1/G-A G-A intron10 1587-1 G-A 1587-1 G-A 3' splice signal NR Yu W
1599/G-A G-A exon11 W512X 1599 G-A Trp → Stop at 512 NR Hattori H
1702/C-G C-G exon11 L547V 1702 C-G Leu → Val at 547 NR Hattori H
1705+1/G-C G-C intron11 1705+1 G-C 1705+1 G-C 5' splice signal class 1 Miyake Y
1784/G-A G-A exon12 R574Q 1784 G-A Arg → Gln at 574 NR Varret M
1822/C-T C-T exon12 P587S 1822 C-T Pro → Ser at 587 class 2 Hirayama T
1845+2/T-C T-C intron12 1845+2 T-C Niigata 1845+2 T-C 5' splice signal class 1 Maruyama T
1925/T-G T-G exon13 L621S 1925 T-G Leu → Ser at 621 NR Yu W
2026/G-A G-A exon14 G655S 2026 G-A Gly → Ser at 655 NR Yu W
2054/C-T C-T exon14 P664L Kanazawa-2 2054 C-T Pro→ Leu at 664 class 2B Soutar AK
2140/G-A G-A exon14 E693K 2140 G-A Glu → Lys at 693 NR Hattori H
2215/C-T C-T exon15 Q718X Yokote 2215 C-T Gln → Stop at 718 NR Higashikata T
223/T-A T-A exon3 C54S 223 T-A Cys → Tyr at 54 class 2 Emi M
2312-3/C-A C-A intron15 2312-3 C-A 2312-3 C-A 3' splice signal NR Yu W
2431/A-T A-T exon17 K790X 2431 A-T Lys → Stop at 790 class 1,4 Maruyama T
244/G-T G-T exon3 C61F 244 G-T Cys → Phe at 61 NR Yu W
285/C-A C-A exon3 C74X 285 C-A Cys → Stop at 74 class 1 Hirayama T
288/G-T G-T exon3 C74F 288 G-T Cys → Phe at 74 NR Yu W
344/G-A G-A exon4 R94H Fukuoka 344 G-A Arg → His at 94 NR Varret M
361/T-G T-G exon4 C100G 361 T-G Cys → Gly at 100 NR Yu W
388/T-A T-A exon4 S109T 388 T-A Ser → Thr at 109 NR Yu W
418/G-A G-A exon4 E119K Philipines 418 G-A Glu → Lys at 119 class 2B Hobbs HH
463/T-C T-C exon4 C134R 463 T-C Cys → Arg at 134 NR Yu W
478/T-C T-C exon4 C139R 478 T-C Cys → Arg at 139 NR Yu W
550/T-C T-C exon4 C163R 550 T-C Cys → Arg at 163 NR Yu W
565/G-A G-A exon4 V168M 565 G-A Val → Met at 168 NR Yu W
611/G-C G-C exon4 C183S 611 G-C Cys → Ser at 183 NR Yu W
68-1/G-C G-C intron1 68-1 G-C 68-1 G-C 3' splice signal class 1 Maruyama T
796/G-A G-A exon5 D245N Naha 796 G-A Asp → Asn at 245 NR Yu W
797/A-G A-G exon5 D245G 797 A-G Asp → Gly at 245 NR Yu W
901/G-T G-T exon6 D280Y Tsuruga 901 G-T Asp → Tyr at 280 NR Yu W
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