Variant position: 371 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:
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 LEAPEKQRTLNEIYHWFTRM FAFFRNHPATWKNAIRHNLSL
Mouse LEAPERQRTLNEIYHWFTRM FAYFRNHPATWKNAIRHNLSL
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
1 – 431 Forkhead box protein P3
1 – 417 Forkhead box protein P3, C-terminally processed
52 – 417 Forkhead box protein P3 41 kDa form
337 – 423 Fork-head
382 – 382 K -> KVSSSEVAVTGMASSAIAAQSGQAWVWAHRHIGEERDVGCWWWLLASEVDAHLLPVPGLPQ. In isoform 3.
370 – 370 M -> T. Disrupts dimerization but does not affect DNA-binding; when associated with Q-348. Disrupts dimerization, does not affect DNA-binding, causes dysregulated expression of a subset of FOXP3 target genes and impairs its ability to confer inhibitory function to regulatory T-cells; when associated with Q-348 and P-372.
372 – 372 A -> P. Disrupts dimerization, does not affect DNA-binding, causes dysregulated expression of a subset of FOXP3 target genes and impairs its ability to confer inhibitory function to regulatory T-cells; when associated with Q-348 and T-370.
360 – 371
Structure of a domain-swapped FOXP3 dimer on DNA and its function in regulatory T cells.
Bandukwala H.S.; Wu Y.; Feuerer M.; Chen Y.; Barboza B.; Ghosh S.; Stroud J.C.; Benoist C.; Mathis D.; Rao A.; Chen L.;
Cited for: X-RAY CRYSTALLOGRAPHY (2.80 ANGSTROMS) OF 336-417 IN COMPLEX WITH DNA AND NFATC2; FUNCTION; SUBUNIT; DOMAIN FORK-HEAD; INTERACTION WITH NFATC2; CHARACTERIZATION OF VARIANTS IPEX GLU-251 DEL; HIS-347; CYS-371 AND ALA-373; MUTAGENESIS OF TRP-348; MET-370 AND ALA-372;
X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.
Wildin R.S.; Ramsdell F.; Peake J.; Faravelli F.; Casanova J.-L.; Buist N.; Levy-Lahad E.; Mazzella M.; Goulet O.; Perroni L.; Bricarelli F.D.; Byrne G.; McEuen M.; Proll S.; Appleby M.; Brunkow M.E.;
Nat. Genet. 27:18-20(2001)
Cited for: VARIANTS IPEX CYS-371; THR-384 AND TRP-397;
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