Variant position: 68 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 184 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 EEETNRLPGGRSRVLLRCYT CKSLPRDERCNLTQNCSHGQT-
Mouse EEETNMIPGSRDRAPLQCYF CQVLHSGESCNQTQSCSSSKP
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
21 – 151 Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1
63 – 148 UPAR/Ly6
78 – 78 N-linked (GlcNAc...) asparagine
65 – 89
68 – 77
66 – 66 Y -> A. Promotes formation of dimers and oligomers reducing number of monomers.
71 – 71 L -> A. Promotes formation of dimers and oligomers reducing number of monomers.
68 – 72
Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia.
Olivecrona G.; Ehrenborg E.; Semb H.; Makoveichuk E.; Lindberg A.; Hayden M.R.; Gin P.; Davies B.S.; Weinstein M.M.; Fong L.G.; Beigneux A.P.; Young S.G.; Olivecrona T.; Hernell O.;
J. Lipid Res. 51:1535-1545(2010)
Cited for: VARIANTS HLPP1D SER-65 AND GLY-68; CHARACTERIZATION OF VARIANTS HLPP1D SER-65 AND GLY-68;
GPIHBP1 missense mutations often cause multimerization of GPIHBP1 and thereby prevent lipoprotein lipase binding.
Beigneux A.P.; Fong L.G.; Bensadoun A.; Davies B.S.; Oberer M.; Gaardsvoll H.; Ploug M.; Young S.G.;
Circ. Res. 116:624-632(2015)
Cited for: CHARACTERIZATION OF VARIANTS HLPP1D SER-65; TYR-65; ARG-68; GLY-68; TYR-68; PHE-89; ARG-108 AND PRO-115; SUBUNIT; INTERACTION WITH LPL; MUTAGENESIS OF TYR-66; LEU-71; THR-91; LEU-92; ILE-93; GLY-101; THR-104; THR-105; HIS-106; SER-107; THR-108; TRP-109; GLN-115 AND VAL-126;
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