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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8IV16: Variant p.Cys83Arg

Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1
Gene: GPIHBP1
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Variant information Variant position: help 83 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Cysteine (C) to Arginine (R) at position 83 (C83R, p.Cys83Arg). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and polar (C) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In HLPP1D. Any additional useful information about the variant.


Sequence information Variant position: help 83 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 184 The length of the canonical sequence.
Location on the sequence: help LRCYTCKSLPRDERCNLTQN C SHGQTCTTLIAHGNTESGLL 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LRCYTCKSLPRDERCNLTQNCSHGQT-CTTLIAHGNTESGLL

Mouse                         LQCYFCQVLHSGESCNQTQSCSSSKPFCITLVSHSGTDKGY
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 21 – 151 Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1
Domain 63 – 148 UPAR/Ly6
Glycosylation 78 – 78 N-linked (GlcNAc...) asparagine
Disulfide bond 65 – 89
Disulfide bond 83 – 110
Mutagenesis 66 – 66 Y -> A. Promotes formation of dimers and oligomers reducing number of monomers.
Mutagenesis 71 – 71 L -> A. Promotes formation of dimers and oligomers reducing number of monomers.
Mutagenesis 91 – 91 T -> A. Promotes formation of dimers and oligomers reducing number of monomers.
Mutagenesis 92 – 92 L -> A. Only slightly increased formation of dimers and oligomers. No effect on number of monomers. Loss of LPL interaction.
Mutagenesis 93 – 93 I -> A. Promotes formation of dimers and oligomers reducing number of monomers.
Mutagenesis 101 – 101 G -> S. Promotes formation of dimers and oligomers reducing number of monomers. Retained some interaction with LPL.



Literature citations
Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene.
Rabacchi C.; D'Addato S.; Palmisano S.; Lucchi T.; Bertolini S.; Calandra S.; Tarugi P.;
J. Clin. Lipidol. 10:915-921(2016)
Cited for: VARIANT HLPP1D ARG-83;
Disclaimer: 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.