Variant position: 4481 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 4563 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 KGKEKIAELSATAQEIIKSQ AIATKKIISDYHQQFRYKLQD
Mouse KWMEKIAELSIVAKETMKSW VTAVAKIMSDYPQQFHSNLQD
Rat KGREKVAELSIVVKERIKSW STAVAEITSDYLRQLHSKLQD
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
28 – 4563 Apolipoprotein B-100
Detection of new variants in the apolipoprotein B (Apo B) gene by PCR-SSCP.
Poirier O.; Ricard S.; Behague I.; Souriau C.; Evans A.E.; Arveiler D.; Marques-Vidal P.; Luc G.; Roizes G.; Cambien F.;
Hum. Mutat. 8:282-285(1996)
Cited for: VARIANTS LEU-1437; SER-1914; LYS-2566; THR-3121; ALA-3945; MET-4128 AND THR-4481;
Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels.
Huijgen R.; Sjouke B.; Vis K.; de Randamie J.S.; Defesche J.C.; Kastelein J.J.; Hovingh G.K.; Fouchier S.W.;
Hum. Mutat. 33:448-455(2012)
Cited for: VARIANTS 12-LEU--LEU-14 DEL; ILE-98; VAL-618; ILE-730; THR-1613; ARG-1923; LYS-2566; LEU-2739; GLN-3638; LEU-3835; LYS-4181; THR-4270; VAL-4314; ASN-4338; THR-4481 AND VAL-4482;
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.