Variant position: 277 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 REYDCKDMSDEVGCVNVTLC EGPNKFKCHSGECITLDKVCN
Mouse REHDCKDMSDELGCVNVTQC DGPNKFKCHSGECISLDKVCD
Rat REHDCKDMSDELGCINVTQC DGPNKFKCHSGECISLDKVCN
Bovine REPDCKDLSDELGCVNVTLC EGPNKFKCQSGECISLDKVCN
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
274 – 313 LDL-receptor class A 7
272 – 272 N-linked (GlcNAc...) asparagine
276 – 289
273 – 273 V -> L. In isoform 3.
An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia.
Ekstroem U.; Abrahamson M.; Sveger T.; Lombardi P.; Nilsson-Ehle P.;
Hum. Genet. 96:147-150(1995)
Cited for: VARIANTS FHCL1 LYS-277; THR-423 AND ASN-579;
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;
Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia.
Cenarro A.; Jensen H.K.; Casao E.; Civeira F.; Gonzalez-Bonillo J.; Rodriguez-Rey J.C.; Gregersen N.; Pocovi M.;
Hum. Mutat. 11:413-413(1998)
Cited for: VARIANTS FHCL1 GLU-92; GLY-95; ARG-116; LEU-177; GLY-221; TYR-221; LYS-277; TYR-302; LYS-434; TYR-667 AND GLU-700;
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;
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.