Variant position: 429 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 860 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human VRKMTLDRSEYTSLIPNLRN VVALDTEVASNRIYWSDLSQR
Mouse VRKMTLDRSEYTSLLPNLKN VVALDTEVTNNRIYWSDLSQK
Rat VRKMTLDRSEYTSLIPNLKN VVALDTEVANNRIYWSDLSQR
Bovine VRKMTLDRSEYTSLIPNLKN VVALDTEVASNRIYWSDLSQR
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
22 – 860 Low-density lipoprotein receptor
22 – 788 Extracellular
397 – 438 LDL-receptor class B 1
427 – 435
Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners.
Leitersdorf E.; van der Westhuyzen D.R.; Coetzee G.A.; Hobbs H.H.;
J. Clin. Invest. 84:954-961(1989)
Cited for: VARIANTS FHCL1 ASN-175; GLU-227 AND MET-429;
Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana.
Pereira E.; Ferreira R.; Hermelin B.; Thomas G.; Bernard C.; Bertrand V.; Nassiff H.; Mendez del Castillo D.; Bereziat G.; Benlian P.;
Hum. Genet. 96:319-322(1995)
Cited for: VARIANTS FHCL1 LA HABANA LYS-277; MET-429 AND MET-797;
Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia.
Thiart R.; Loubser O.; de Villiers J.N.P.; Marx M.P.; Zaire R.; Raal F.J.; Kotze M.J.;
Hum. Mutat. Suppl. 1:S232-S233(1998)
Cited for: VARIANTS FHCL1 GLN-416 AND MET-429;
Possible common mutations in the low density lipoprotein receptor gene in Chinese.
Mak Y.T.; Zhang J.; Chan Y.S.; Mak T.W.L.; Tomlinson B.; Masarei J.R.L.; Pang C.P.;
Hum. Mutat. Suppl. 1:S310-S313(1998)
Cited for: VARIANTS FHCL1 TYR-329; ARG-414 AND MET-429;
Presence and type of low density lipoprotein receptor (LDLR) mutation influences the lipid profile and response to lipid-lowering therapy in Brazilian patients with heterozygous familial hypercholesterolemia.
Santos P.C.; Morgan A.C.; Jannes C.E.; Turolla L.; Krieger J.E.; Santos R.D.; Pereira A.C.;
Cited for: VARIANTS FHCL1 TYR-160; ALA-168; LEU-177; TYR-184; GLY-221; GLN-228; LYS-228; TRP-276; TYR-285; GLY-301; PHE-318; CYS-326; SER-343; TYR-368; ASP-373; TRP-406; MET-429; ASN-492; ASP-549; HIS-564; HIS-574; TRP-595; HIS-601; LEU-685; LEU-699; MET-797 AND GLN-814;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.