UniProtKB/Swiss-Prot P11150: Variant p.Ser289Phe

Hepatic triacylglycerol lipase
Gene: LIPC
Chromosomal location: 15q21-q23
Variant information

Variant position:  289
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Serine (S) to Phenylalanine (F) at position 289 (S289F, p.Ser289Phe).
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:  Change from small size and polar (S) to large size and aromatic (F)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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:  In HL deficiency.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  289
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  499
The length of the canonical sequence.

Location on the sequence:   NAITQTIKCSHERSVHLFID  S LLHAGTQSMAYPCGDMNSFS
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                         NAITQTIKCSHERSVHLFIDSLLHAGTQSMAYPCGDMNSFS

Mouse                         NAITQTIKCAHERSVHLFIDSLQHSDLQSIGFQCSDMGSFS

Rat                           NAITQTINCAHERSVHLFIDSLQHSNLQNTGFQCSNMDSFS

Bovine                        NAITRTVKCAHERSVHLFIDSLLHADMQSMAYLCRDMDRFS

Rabbit                        NALSQTIKCAHERSVHLFIDSLLHPSMQSTAYQCSDMDSFS

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.

TypePositionsDescription
Chain 23 – 499 Hepatic triacylglycerol lipase
Active site 279 – 279 Charge relay system


Literature citations

Human hepatic lipase mutations and polymorphisms.
Hegele R.A.; Tu L.; Connelly P.W.;
Hum. Mutat. 1:320-324(1992)
Cited for: VARIANTS HL DEFICIENCY PHE-289 AND MET-405;

Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors.
Morabia A.; Cayanis E.; Costanza M.C.; Ross B.M.; Flaherty M.S.; Alvin G.B.; Das K.; Gilliam T.C.;
Hum. Mol. Genet. 12:2733-2743(2003)
Cited for: VARIANTS MET-95; SER-215; PHE-289; ILE-342; LEU-356; MET-405 AND ALA-409;

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.