Sequence information
Variant position: 699 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:
YLCLPAPQINPHSPKFTCAC
P DGMLLARDMRSCLTEAEAAV
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 YLCLPAPQINPHSPKFTCACP DGMLLARDMRSCLTEAEAAV
Mouse YLCLPAPQIGPHSPKFTCACP DGMLLAKDMRSCLTEVDTVL
Rat YMCLPAPQISAHSPKFTCACP DGMLLAKDMRSCLPEVDTVP
Bovine YLCLPAPQINPRSPKFTCACP DGMLLAKDMRSCLTESESAV
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
698 – 711
Alternative sequence
663 – 713
Missing. In isoform 2.
Literature citations
Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia.
Thiart R.; Scholtz C.L.; Vergotine J.; Hoogendijk C.F.; de Villiers J.N.P.; Nissen H.; Brusgaard K.; Gaffney D.; Hoffs M.S.; Vermaak W.J.H.; Kotze M.J.;
J. Med. Genet. 37:514-519(2000)
Cited for: VARIANT FHCL1 47-ASP-GLY-48 DEL; VARIANTS HIS-172; TRP-253; GLN-406; LYS-408; LEU-699 AND GLN-814;
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.