Variant position: 326 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 545 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 GELICCDGCPRAFHLACLSP PLREIPSGTWRCSSCLQATVQ
Mouse GELICCDGCPRAFHLACLSP PLQEIPSGLWRCSCCLQGRVQ
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 – 545 Autoimmune regulator
296 – 343 PHD-type 1
307 – 307 E -> A. Reduces interaction with histone H3.
312 – 312 D -> A. Abolishes interaction with histone H3.
Structure and site-specific recognition of histone H3 by the PHD finger of human autoimmune regulator.
Chakravarty S.; Zeng L.; Zhou M.-M.;
Cited for: STRUCTURE BY NMR OF 294-347 IN COMPLEX WITH ZINC IONS AND UNMETHYLATED HISTONE H3 N-TERMINUS; CHARACTERIZATION OF VARIANTS APS1 MET-301; TYR-311; LEU-326 AND GLN-326;
Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
Saugier-Veber P.; Drouot N.; Wolf L.M.; Kuhn J.M.; Frebourg T.; Lefebvre H.;
Eur. J. Endocrinol. 144:347-351(2001)
Cited for: VARIANT APS1 LEU-326;
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