Variant position: 50 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 NEFQCQDGKCISYKWVCDGS AECQDGSDESQETCLSVTCKS
Mouse NEFQCRDGKCIASKWVCDGS PECPDGSDESPETCMSVTCQS
Rat NEFQCRDGKCIVSKWVCDGS RECPDGSDESPETCMSVTCRS
Bovine NEFQCQDGKCISYKWVCDGT AECQDGSDESQETCKSVTCKM
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
25 – 65 LDL-receptor class A 1
34 – 52
46 – 63
35 – 155 Missing. In isoform 6.
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.