Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P06858: Variant p.Ile252Thr

Lipoprotein lipase
Gene: LPL
Feedback?
Variant information Variant position: help 252 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 Isoleucine (I) to Threonine (T) at position 252 (I252T, p.Ile252Thr). 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 hydrophobic (I) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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 HLPP1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 252 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 475 The length of the canonical sequence.
Location on the sequence: help IYPNGGTFQPGCNIGEAIRV I AERGLGDVDQLVKCSHERSI 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.
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 28 – 475 Lipoprotein lipase
Region 243 – 266 Essential for determining substrate specificity
Active site 268 – 268 Charge relay system
Disulfide bond 243 – 266
Mutagenesis 244 – 264 NIGEAIRVIAERGLGDVDQLV -> HFLELYRHIAQHGFNAITQTI. Reduced triglyceride hydrolase activity and increased phospholipase activity.
Mutagenesis 245 – 263 IGEAIRVIAERGLGDVDQL -> GIAEIRVIEARGGLDVDLQ. Loss of both triglyceride hydrolase and phospholipase activity.
Mutagenesis 268 – 268 H -> G. Loss of enzyme activity with triolein and tributyrin.
Mutagenesis 268 – 268 H -> Q. Loss of enzyme activity with triolein and tributyrin.
Helix 247 – 253



Literature citations
Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event.
Henderson H.E.; Bijvoet S.M.; Mannens M.A.M.M.; Bruin T.; Erkelens D.W.; Hayden M.R.; Kastelein J.J.P.;
Am. J. Med. Genet. 78:313-316(1998)
Cited for: VARIANTS HLPP1 THR-252 AND HIS-270;
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.