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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13796: Variant p.Asp24Glu

Plastin-2
Gene: LCP1
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Variant information Variant position: help 24 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Aspartate (D) to Glutamate (E) at position 24 (D24E, p.Asp24Glu). 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 Similar physico-chemical property. Both residues are medium size and acidic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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



Sequence information Variant position: help 24 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 627 The length of the canonical sequence.
Location on the sequence: help GSVSDEEMMELREAFAKVDT D GNGYISFNELNDLFKAACLP 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 2 – 627 Plastin-2
Domain 9 – 44 EF-hand 1
Binding site 22 – 22
Binding site 24 – 24
Binding site 26 – 26
Binding site 28 – 28
Binding site 33 – 33
Modified residue 5 – 5 Phosphoserine
Modified residue 7 – 7 Phosphoserine
Modified residue 28 – 28 Phosphotyrosine
Modified residue 30 – 30 Phosphoserine
Alternative sequence 1 – 25 MARGSVSDEEMMELREAFAKVDTDG -> MCAEDGDSKFSMSISMNSPFLEILH. In isoform 2.
Mutagenesis 5 – 5 S -> A. Abolishes phosphorylation and reduces the cell surface expression of CD69 and IL2RA. Reduces association with the actin cytoskeleton.
Mutagenesis 5 – 5 S -> E. Promotes association with the actin cytoskeleton.



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.