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UniProtKB/Swiss-Prot Q9BZS1: Variant p.Leu242Pro

Forkhead box protein P3
Gene: FOXP3
Variant information

Variant position:  242
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Leucine (L) to Proline (P) at position 242 (L242P, p.Leu242Pro).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
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:  In IPEX; mild phenotype; no loss of protein expression.
Any additional useful information about the variant.



Sequence information

Variant position:  242
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  431
The length of the canonical sequence.

Location on the sequence:   HLLDEKGRAQCLLQREMVQS  L EQQLVLEKEKLSAMQAHLAG
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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         HLLDEKGRAQCLLQREMVQSLEQQLVLEKEKLSAMQAHLAG

Mouse                         HLLDEKGKAQCLLQREVVQSLEQQLELEKEKLGAMQAHLAG

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 1 – 431 Forkhead box protein P3
Chain 1 – 417 Forkhead box protein P3, C-terminally processed
Chain 52 – 417 Forkhead box protein P3 41 kDa form
Region 239 – 260 Leucine-zipper
Motif 239 – 248 Nuclear export signal
Cross 250 – 250 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Cross 252 – 252 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Mutagenesis 242 – 242 L -> A. Decrease in nuclear export; when associated with A-246 and A-248.
Mutagenesis 246 – 246 L -> A. Decrease in nuclear export; when associated with A-242 and A-248.
Mutagenesis 248 – 248 L -> A. Decrease in nuclear export; when associated with A-242 and A-246.


Literature citations

Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity.
Gambineri E.; Perroni L.; Passerini L.; Bianchi L.; Doglioni C.; Meschi F.; Bonfanti R.; Sznajer Y.; Tommasini A.; Lawitschka A.; Junker A.; Dunstheimer D.; Heidemann P.H.; Cazzola G.; Cipolli M.; Friedrich W.; Janic D.; Azzi N.; Richmond E.; Vignola S.; Barabino A.; Chiumello G.; Azzari C.; Roncarolo M.G.; Bacchetta R.;
J. Allergy Clin. Immunol. 122:1105-1112(2008)
Cited for: VARIANTS IPEX PRO-242; LEU-324; ALA-339; HIS-347; ALA-373; CYS-374 AND THR-384; CHARACTERIZATION OF VARIANTS IPEX PRO-242; LEU-324; ALA-339; HIS-347; ALA-373; CYS-374 AND THR-384;

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.