Variant position: 564 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 KGGLNGVDIYSLVTENIQWP NGITLDLLSGRLYWVDSKLHS
Mouse KGGLNGVDIHSLVTENIQWP NGITLDLSSGRLYWVDSKLHS
Rat KGGLNGVDIYSLVTEDIQWP NGITLDLPSGRLYWVDSKLHS
Bovine KGGLNGVDVYSLVTEDIQWP NGITLDLSGGRLYWVDSKLHS
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
529 – 572 LDL-receptor class B 4
563 – 569
Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia.
Tricot-Guerber F.; Saint-Jore B.; Valenti K.; Foulon T.; Bost M.; Hadjian A.J.;
Hum. Mutat. 6:87-88(1995)
Cited for: VARIANT FHCL1 FRENCH HIS-564;
Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia.
Jensen H.K.; Jensen T.G.; Faergeman O.; Jensen L.G.; Andresen B.S.; Corydon M.J.; Andreasen P.H.; Hansen P.S.; Heath F.; Bolund L.; Gregersen N.;
Hum. Mutat. 9:437-444(1997)
Cited for: VARIANTS FHCL1 HIS-564 AND 799-LEU--PHE-801 DEL;
Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia.
Jensen H.K.; Jensen L.G.; Meinertz H.; Hansen P.S.; Gregersen N.; Faergeman O.;
Cited for: VARIANTS FHCL1 GLY-87; LYS-140; ASN-172; ARG-243; LEU-306; PRO-404; HIS-564; SER-577; ASN-579; ILE-726 AND LYS-825;
Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations.
Ebhardt M.; Schmidt H.; Doerk T.; Tietge U.; Haas R.; Manns M.-P.; Schmidtke J.; Stuhrmann M.;
Hum. Mutat. 13:257-257(1999)
Cited for: VARIANTS FHCL1 SER-50; ASN-221; LYS-288; VAL-432 AND HIS-564;
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;
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