Sequence information
Variant position: 814 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:
LPIVLLVFLCLGVFLLWKNW
R LKNINSINFDNPVYQKTTED
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 LPIVLLVFLCLGVFLLWKNWR LKNINSINFDNPVYQKTTED
Mouse FPIALVALLVLGAVLLWRNWR LKNINSINFDNPVYQKTTED
Rat LPIALVALLVFGAILLWRNWR LRNINSINFDNPVYQKTTED
Bovine LPIALLILLAFGTFLLWKNWR LKSINSINFDNPVYQKTTED
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
811 – 860
Cytoplasmic
Region
811 – 860
Required for MYLIP-triggered down-regulation of LDLR
Mutagenesis
811 – 811
K -> R. No change. No change; when associated with R-816 and R-830. Insensitive to MYLIP-triggered degradation; when associated with R-816; R-830 and A-839.
Mutagenesis
816 – 816
K -> R. No change. No change; when associated with R-830. No change; when associated with R-811 and R-830. Insensitive to MYLIP-triggered degradation; when associated with R-830 and A-839. Insensitive to MYLIP-triggered degradation; when associated with R-811; R-830 and A-839.
Mutagenesis
821 – 821
I -> A. 3-fold decreased affinity for LDLRAP1.
Mutagenesis
821 – 821
I -> R. 10-fold decreased affinity for LDLRAP1.
Mutagenesis
828 – 828
Y -> A. Abolishes interaction with ARRB2.
Mutagenesis
829 – 829
Q -> A. Decreased affinity for LDLRAP1.
Mutagenesis
830 – 830
K -> R. No change. No change; when associated with R-816. No change; when associated with R-811 and R-816. Insensitive to MYLIP-triggered degradation; when associated with A-839. Insensitive to MYLIP-triggered degradation; when associated with R-816 and A-839. Insensitive to MYLIP-triggered degradation; when associated with R-811; R-816 and A-839.
Literature citations
Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Cargill M.; Altshuler D.; Ireland J.; Sklar P.; Ardlie K.; Patil N.; Shaw N.; Lane C.R.; Lim E.P.; Kalyanaraman N.; Nemesh J.; Ziaugra L.; Friedland L.; Rolfe A.; Warrington J.; Lipshutz R.; Daley G.Q.; Lander E.S.;
Nat. Genet. 22:231-238(1999)
Cited for: VARIANTS ARG-2; ILE-468 AND GLN-814;
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.