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UniProtKB/Swiss-Prot P08519: Variant p.Trp4193Arg

Apolipoprotein(a)
Gene: LPA
Chromosomal location: 6q26-q27
Variant information

Variant position:  4193
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Tryptophan (W) to Arginine (R) at position 4193 (W4193R, p.Trp4193Arg).
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 large size and aromatic (W) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  Loss of lysine-sepharose binding.
Any additional useful information about the variant.



Sequence information

Variant position:  4193
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  4548
The length of the canonical sequence.

Location on the sequence:   CRNPDADTGPWCFTMDPSIR  W EYCNLTRCSDTEGTVVAPPT
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.

TypePositionsDescription
Chain 20 – 4548 Apolipoprotein(a)
Domain 4113 – 4226 Kringle 37
Glycosylation 4197 – 4197 N-linked (GlcNAc...) asparagine
Disulfide bond 4124 – 4201
Disulfide bond 4173 – 4196
Beta strand 4193 – 4197


Literature citations

A single point mutation (Trp72-->Arg) in human apo(a) kringle 4-37 associated with a lysine binding defect in Lp(a).
Scanu A.M.; Pfaffinger D.; Lee J.C.; Hinman J.;
Biochim. Biophys. Acta 1227:41-45(1994)
Cited for: VARIANT ARG-4193;

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.