UniProtKB/Swiss-Prot P06858: Variant p.Asn318Ser

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 318 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LP/P [Disclaimer: Variants classification is intended for research purposes only, not for clinical and diagnostic use. The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant.] 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: From Asparagine (N) to Serine (S) at position 318 (N318S, p.Asn318Ser). 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 medium size and polar (N) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: 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: In HLPP1; risk factor for FCHL3; loss of activity. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs268 [ dbSNP | Ensembl ]

Sequence information

Variant position: 318 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 475 The length of the canonical sequence.
Location on the sequence: EKGLCLSCRKNRCNNLGYEI N KVRAKRSSKMYLKTRSQMPY 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: 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
Chain	28 – 475	Lipoprotein lipase

Literature citations

Cloning of human full-length CDSs in BD Creator(TM) system donor vector.
Kalnine N.; Chen X.; Rolfs A.; Halleck A.; Hines L.; Eisenstein S.; Koundinya M.; Raphael J.; Moreira D.; Kelley T.; LaBaer J.; Lin Y.; Phelan M.; Farmer A.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT SER-318; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT SER-318; A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis.
Reymer P.W.A.; Gagne E.; Groenemeyer B.E.; Zhang H.; Forsyth I.; Jansen H.; Seidell J.C.; Kromhout D.; Lie K.E.; Kastelein J.J.; Hayden M.R.;
Nat. Genet. 10:28-34(1995)
Cited for: VARIANT FCHL3 SER-318; Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia.
de Bruin T.W.A.; Mailly F.; van Barlingen H.H.J.J.; Fisher R.; Castro Cabezas M.; Talmud P.; Dallinga-Thie G.M.; Humphries S.E.;
Eur. J. Clin. Invest. 26:631-639(1996)
Cited for: VARIANTS ASN-36 AND SER-318; INVOLVEMENT IN FCHL3; Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy.
Mailly F.; Palmen J.; Muller D.P.R.; Gibbs T.; Lloyd J.; Brunzell J.; Durrington P.; Mitropoulos K.; Betteridge J.; Watts G.; Lithell H.; Angelico F.; Humphries S.E.; Talmud P.J.;
Hum. Mutat. 10:465-473(1997)
Cited for: VARIANTS HLPP1 GLY-113; THR-185; GLN-210; GLU-215; ARG-220; LEU-234; SER-318; THR-328 AND PRO-330; Common genetic variants of lipoprotein lipase and apolipoproteins AI-CIII that relate to coronary artery disease: a study in Chinese and European subjects.
Zhang Q.; Liu Y.; Liu B.W.; Fan P.; Cavanna J.; Galton D.J.;
Mol. Genet. Metab. 64:177-183(1998)
Cited for: VARIANT HLPP1 THR-288; VARIANTS ASN-36 AND SER-318; INVOLVEMENT IN FCHL3; DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene.
Nickerson D.A.; Taylor S.L.; Weiss K.M.; Clark A.G.; Hutchinson R.G.; Stengaerd J.; Salomaa V.; Vartiainen E.; Boerwinkle E.; Sing C.F.;
Nat. Genet. 19:233-240(1998)
Cited for: VARIANT FCHL3 SER-318; VARIANTS MET-370 AND ALA-379; 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 ASN-36 AND SER-318; INVOLVEMENT IN FCHL3;