UniProtKB/Swiss-Prot P06858: Variant p.Ala427Thr

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 427 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LB/B 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 Alanine (A) to Threonine (T) at position 427 (A427T, p.Ala427Thr). 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 hydrophobic (A) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: 0 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
Other resources: Links to websites of interest for the variant.

• Variant rs5934 [ dbSNP | Ensembl ]

Sequence information

Variant position: 427 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: LKWKSDSYFSWSDWWSSPGF A IQKIRVKAGETQKKVIFCSR 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
Domain	341 – 464	PLAT
Mutagenesis	417 – 417	W -> A. Loss of interaction with lipoprotein particles, but no effect on interaction with GPIHBP1; when associated with 420-A-A-421.
Mutagenesis	430 – 430	K -> N. Impaired heparin-binding; when associated with N-432 and N-437.
Mutagenesis	432 – 432	R -> N. Impaired heparin-binding; when associated with N-430 and N-437.
Mutagenesis	434 – 434	K -> N. Impaired heparin-binding; when associated with N-430 and N-432.
Beta strand	425 – 428

Literature citations

Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Cargill M.; Altshuler D.; Ireland J.; Sklar P.; Ardlie K.; Patil N.; Shaw N.; Lane C.R.; Lim E.P.; Kalyanaraman N.; Nemesh J.; Ziaugra L.; Friedland L.; Rolfe A.; Warrington J.; Lipshutz R.; Daley G.Q.; Lander E.S.;
Nat. Genet. 22:231-238(1999)
Cited for: VARIANT THR-427;