Lrlr0023964 Dominant

Lrlr0023964 Dominant




⚡ 👉🏻👉🏻👉🏻 INFORMATION AVAILABLE CLICK HERE 👈🏻👈🏻👈🏻




















































Global Variome shared LOVD
LDLR (low density lipoprotein receptor)
The variants shown are described using the NM_000527.4 transcript reference sequence.
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
predicted trucated protein; 6bp duplication (GATGGT) & 5bp deletion (CCCCG)
predicted no protein; Deletion of exons 1 & 2; May be the same as c.1-?_190+?del
1/37 patients with LDLR mutation. 1/1945 FH patients. Variant not present in controls
PubMed: Wong 2019, Journal: Wong 2019
7/8 conservation {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795}
limited effect on LDLR activity, Transient transfection in HepG2 cells demonstrated
VKGL data sharing initiative Nederland, 1 more item
PubMed: Scholtz 1999, PubMed: Whittall 2002
PubMed: Scholtz 1999, PubMed: Snozek 2009
prediction no effect on transcription
100% of wt trascriptional activity (luciferase assay).
prediction no effect on transcription
VKGL data sharing initiative Nederland
FH Denver-1, FH French Canadian-1, FH Valencia-5
Promoter - exon 1, promotor & exon 1, Promotor - exon 1
<2% LDLR activity in Hmz, <2% LDLR activity when Htz with unknown FH allele
PubMed: Chaves 2001, PubMed: Fouchier 2005, PubMed: Hobbs 1987, PubMed: Hobbs 1988, PubMed: Tichy 2012, 4 more items
45% LDLR activity in Htz fibroblasts
PubMed: Chaves 2001, PubMed: Chmara 2010, PubMed: Garuti 1996, PubMed: Koeijvoets 2005
4/169 patients with LDLR mutation. 4/378 FH patients. Variant not present in Normal Non FH patients
PubMed: Bertolini 2000, PubMed: Lelli 1991, PubMed: Sun 1992
g.11089362_11133900del, g.11089362_11133901del
predicted no protein; deletion of whole gene, 1 more item
PubMed: Marduel 2010, PubMed: Usifo 2012
11% of wt trascriptional activity (luciferase assay)
g.11089394_11089395delinsTTCTGCAAACTCCT
40% of wt transcription using luciferase assay
predicted reduced transcription; Hobb's numbering: -59C>T., VKGL data sharing initiative Nederland
PubMed: Brusgaard 2006, PubMed: Khoo 2000, PubMed: Scholtz 1999
VKGL data sharing initiative Nederland
VKGL data sharing initiative Nederland
VKGL data sharing initiative Nederland
PubMed: Leren 2004, PubMed: Mozas 2002
PubMed: Alonso 2009, PubMed: De Castro-Oros 2011
VKGL data sharing initiative Nederland, 1 more item
24% LDLR activity in Htz lymphocytes. Reduced level of expression
c.-138delT, LDLR(NM_000527.4):c.-138delT
predicted reduced levels of transcription; Hobbs' numbering: -45delT., 1 more item
Luciferase assay 43% of normal in the presence & 25% in the absence of sterols in the medium.
predicted reduced transcription; Hobbs' numbering: -45T>C
5-15% LDLR activity when Htz with c.1222G>A, p.(Glu408Lys), FH Algeria-1, FH Osaka, Not tested
VKGL data sharing initiative Nederland, 2 more items
PubMed: Dedoussis 2003, PubMed: Mak 1998
Transcription level of variant reduced to <5% of wt, 1 more item
prediction reduced transcription, VKGL data sharing initiative Nederland, 1 more item
PubMed: Fouchier 2005, PubMed: Jensen 1996, PubMed: Kim 2004, PubMed: Koivisto 1994, 1 more item
predicted reduced transcription; On the same allele as c.1185G>C, p.(Val395Val), 2 more items
PubMed: Bourbon 2009, PubMed: Hobbs 1992, PubMed: Medeiros 2010, PubMed: Mozas 2004
VKGL data sharing initiative Nederland
PubMed: Hooper 2012, PubMed: Taylor 2010
3% of WT promoter activity (luciferase assay)
prediction reduced transcription, VKGL data sharing initiative Nederland, 1 more item
PubMed: Alonso 2009, PubMed: Francova 2004
VKGL data sharing initiative Nederland
Normal levels of transcription (luciferase assay in HEPG2 cells)
prediction no effect on transcription
VKGL data sharing initiative Nederland
VKGL data sharing initiative Nederland
Normal levels of transcription (luciferase assay in HEPG2 cells)
prediction no effect on transcription
VKGL data sharing initiative Nederland
VKGL data sharing initiative Nederland
prediction no effect on transcription
VKGL data sharing initiative Nederland
PPII HumDiv benign, 0.167; HumVar benign, 0.354
PubMed: Chaves 2001, PubMed: Fouchier 2005, PubMed: Tosi 2007
PPII HumDiv benign, 0.323; HumVar benign, 0.354
VKGL data sharing initiative Nederland, 1 more item
PubMed: Bourbon 2008, PubMed: Lombardi 1997, PubMed: Nauck 2001
PPII HumDiv benign, 0.167; HumVar benign, 0.354
VKGL data sharing initiative Nederland, 1 more item
c.[-187-?_190+?del;1061-?_1845+?del]
PubMed: Bourbon 2008, PubMed: Marduel 2010
VKGL data sharing initiative Nederland
PPII HumDiv possibly damaging, 0.525; HumVar possibly damaging, 0.48
p.(Met1Ile), normal translation from this codon would not occur
1/3900 in this study. not in ExAC, May 2015
PPII HumDiv benign, 0; HumVar benign, 0
PPII HumDiv benign, 0; HumVar benign, 0
P-19fsX202; FH Dallas-1, P-19fsX203; FH Dallas-1
<2% LDLR activity when Htz with unknown FH allele
predicted trucated protein; 1bp deletion (C in a run of 3 Cs), 2 more items
PubMed: Hobbs 1992, PubMed: Mozas 2004
PubMed: Cenarro 1998, PubMed: Hobbs 1992, PubMed: Robles-Osorio 2006
<2% LDLR activity when Htz with c.2012delC, p.(Leu672*), FH Nanjing-2
PubMed: Cenarro 1998, PubMed: Hobbs 1992, PubMed: Robles-Osorio 2006
LDLR(NM_000527.4):c.25_29delCGCTG (p.R9Dfs*41)
VKGL data sharing initiative Nederland
PPII HumDiv possibly damaging, 0.836; HumVar possibly damaging, 0.549
40% LDLR activity in fibroblasts of de novo Htz
PPII HumDiv possibly damaging, 0.836; HumVar possibly damaging, 0.549
VKGL data sharing initiative Nederland, 1 more item
Sarah Leigh, VKGL-NL_Groningen, VKGL-NL_AMC
predicted trucated protein; 11bp deletion of CTGGACCGTCG
VKGL data sharing initiative Nederland
VKGL data sharing initiative Nederland
p.(Leu14Phefs*38), p.(Leu14PhefsTer38)
c.41_42insT, LDLR(NM_000527.4):c.41dupT (p.L14Ffs*38)
prediction truncated protein, VKGL data sharing initiative Nederland
VKGL data sharing initiative Nederland
PPII HumDiv probably damaging 0.992; HumVar possibly damaging, 0.770
0.174; (Ch, Rh, B, M, Ra, H, Rb, X, S)
PPII HumDiv benign, 0.005; HumVar benign, 0.009
0.174; (Ch, Rh, B, M, Ra, H, Rb, X, S)
PPII HumDiv possibly damaging, 0.940; HumVar possibly damaging, 0.713
predicted silent; p.(Leu16=) Rare variant
PPII HumDiv possibly damaging, 0.646; HumVar benign, 0.183
PPII HumDiv benign, 0.013; HumVar benign, 0.003
PPII HumDiv benign, 0.12; HumVar benign, 0.099
Corrected after personal communication with author. Non-polar>Charged(+)-polar, 2 more items
PubMed: Alonso 2009, PubMed: Amsellem 2002, PubMed: Bertolini 2013, PubMed: Chmara 2010, 6 more items
0.001046 ExAC, May 2015, 1 more item
predicted trucated protein; Segregation reported in affected family members in this article
VKGL data sharing initiative Nederland
VKGL data sharing initiative Nederland
VKGL data sharing initiative Nederland
VKGL data sharing initiative Nederland
VKGL data sharing initiative Nederland
VKGL data sharing initiative Nederland
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Powered by LOVD v.3.0 Build 26
LOVD software ©2004-2021 Leiden University Medical Center
The LOVD software that runs this database is provided free of charge to the scientific community. However, creating and maintaining the software, keeping the servers running, and curating the central "Global Variome shared LOVD" database is not for free. Please consider supporting our work through a donation to "Global Variome" (select "Support Global Variome Shared LOVD").


Thank you in advance for your generous support,
the LOVD team, Leiden, Netherlands



Установите Facebook для iPhone для более быстрого просмотра.

Busty Creampie Porn
Tiny Bikini Models
Jensen Boobs
Big Black Cock Granny
Huge Black Dildo
Lrlr0023964 Dominant | Ja Rule | ВКонтакте
DOMINANT, Sabiedriba ar ierobezotu atbildibu, 40003567…
Unique variants in the LDLR gene - Global Variome shared LOVD
Real Dominant Women
Type LR Series
D-Subminiature: Serial Cable | Null Modem Cable | Serial ...
DOMINANT, Sabiedrība ar ierobežotu atbildību, 40003567790 ...
DOMINANT OÜ (10272610) - Ülevaade @ Inforegister.ee
DOMINANT - LAKICKZ
Dominant Gene (2011) (Dominant Gene) смотреть онлайн ...
Lrlr0023964 Dominant


Report content on this page

Report Page

Please submit your DMCA takedown request to dmca@telegram.org