Sequence information
Variant position: 685 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:
NWCERTTLSNGGCQYLCLPA
P QINPHSPKFTCACPDGMLLA
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 NWCERTTL-SNGGCQYLCLPAP QINPHSPKFTCACPDGMLLA
Mouse NWCETTALLPNGGCQYLCLPAP QIGPHSPKFTCACPDGMLL
Rat NWCEATVL-PNGGCQYMCLPAP QISAHSPKFTCACPDGMLL
Bovine NWCERTAL-RNGGCQYLCLPAP QINPRSPKFTCACPDGMLL
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
Chain
22 – 860
Low-density lipoprotein receptor
Topological domain
22 – 788
Extracellular
Domain
663 – 712
EGF-like 3
Disulfide bond
677 – 696
Alternative sequence
663 – 713
Missing. In isoform 2.
Literature citations
Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors.
Soutar A.K.; Knight B.L.; Patel D.D.;
Proc. Natl. Acad. Sci. U.S.A. 86:4166-4170(1989)
Cited for: VARIANT FHCL1 LEU-685;
Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin.
Rubinsztein D.C.; Coetzee G.A.; Marais A.D.; Leitersdorf E.; Seftel H.C.; van der Westhuyzen D.R.;
J. Lipid Res. 33:1647-1655(1992)
Cited for: VARIANT FHCL1 LEU-685;
Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population.
Maruyama T.; Miyake Y.; Tajima S.; Harada-Shiba M.; Yamamura T.; Tsushima M.; Kishino B.; Horiguchi Y.; Funahashi T.; Matsuzawa Y.; Yamamoto A.;
Arterioscler. Thromb. Vasc. Biol. 15:1713-1718(1995)
Cited for: VARIANTS FHCL1 LYS-140; SER-338 AND LEU-685;
Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics.
Peeters A.V.; van Gaal L.F.; du Plessis L.; Lombardi M.P.R.; Havekes L.M.; Kotze M.J.;
Hum. Genet. 100:266-270(1997)
Cited for: VARIANT FHCL1 LEU-685;
Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.
Humphries S.E.; Whittall R.A.; Hubbart C.S.; Maplebeck S.; Cooper J.A.; Soutar A.K.; Naoumova R.; Thompson G.R.; Seed M.; Durrington P.N.; Miller J.P.; Betteridge D.J.B.; Neil H.A.W.;
J. Med. Genet. 43:943-949(2006)
Cited for: VARIANTS FHCL1 TYR-89; LYS-101; GLY-218 DEL; GLY-221; ASN-221; TYR-358; PRO-479; HIS-482; ARG-677 AND LEU-685; FUNCTION;
Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.
Widhalm K.; Dirisamer A.; Lindemayr A.; Kostner G.;
J. Inherit. Metab. Dis. 30:239-247(2007)
Cited for: VARIANTS FHCL1 THR-50; LEU-211; GLY-221; GLU-266; LYS-277; ARG-286; ARG-314; ARG-352; LYS-408; THR-431; HIS-442; MET-523; GLY-577; THR-585 AND LEU-685;
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.;
Atherosclerosis 233:206-210(2014)
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;
Disclaimer:
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.