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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P05107: Variant p.Ala239Thr

Integrin beta-2
Gene: ITGB2
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Variant information Variant position: help 239 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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 Alanine (A) to Threonine (T) at position 239 (A239T, p.Ala239Thr). 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 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: help 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
Variant description: help In LAD1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 239 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 769 The length of the canonical sequence.
Location on the sequence: help TEVGKQLISGNLDAPEGGLD A MMQVAACPEEIGWRNVTRLL 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         TEVGKQLISGNLDAPEGGLDAMMQVAACPEEIGWRNVTRLL

Mouse                         TEVGKQLISGNLDAPEGGLDAIMQVAACPEEIGWRNVTRLL

Pig                           TEVGKQLISGNLDAPEGGLDAMMQVAACPEEIGWRNVTRLL

Bovine                        TEVGKQLISGNLDAPEGGLDAMMQVAACPEEIGWRNVTRLL

Goat                          TEVGKQLISGNLDAPEGGLDAMMQVAACPEEIGWRNVTRLL

Sheep                         TEVGKQLISGNLDAPEGGLDAMMQVAACPEEIGWRNVTRLL
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 23 – 769 Integrin beta-2
Topological domain 23 – 700 Extracellular
Domain 124 – 363 VWFA
Binding site 229 – 229 in LIMBS binding site
Binding site 231 – 231 in LIMBS binding site
Binding site 233 – 233 in LIMBS binding site
Binding site 234 – 234 in LIMBS binding site
Binding site 234 – 234 in MIDAS binding site
Glycosylation 254 – 254 N-linked (GlcNAc...) asparagine
Disulfide bond 33 – 447
Helix 236 – 245



Literature citations
Characterization of 11 new cases of leukocyte adhesion deficiency type 1 with seven novel mutations in the ITGB2 gene.
Parvaneh N.; Mamishi S.; Rezaei A.; Rezaei N.; Tamizifar B.; Parvaneh L.; Sherkat R.; Ghalehbaghi B.; Kashef S.; Chavoshzadeh Z.; Isaeian A.; Ashrafi F.; Aghamohammadi A.;
J. Clin. Immunol. 30:756-760(2010)
Cited for: VARIANTS LAD1 TYR-128; THR-239 AND ALA-716;
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.