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UniProtKB/Swiss-Prot Q9H334: Variant p.Asn597Thr

Forkhead box protein P1
Gene: FOXP1
Variant information

Variant position:  597
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Asparagine (N) to Threonine (T) at position 597 (N597T, p.Asn597Thr).
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 polar.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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:  Polymorphism; does not affect nuclear localization; no loss of transcriptional repression activity; no loss of ability to self-associate; no loss of interaction with FOXP2.
Any additional useful information about the variant.



Sequence information

Variant position:  597
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  677
The length of the canonical sequence.

Location on the sequence:   MAENSIPLYTTASMGNPTLG  N LASAIREELNGAMEHTNSNE
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:  
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 – 677 Forkhead box protein P1
Alternative sequence 115 – 677 Missing. In isoform 5.


Literature citations

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits.
Horn D.; Kapeller J.; Rivera-Brugues N.; Moog U.; Lorenz-Depiereux B.; Eck S.; Hempel M.; Wagenstaller J.; Gawthrope A.; Monaco A.P.; Bonin M.; Riess O.; Wohlleber E.; Illig T.; Bezzina C.R.; Franke A.; Spranger S.; Villavicencio-Lorini P.; Seifert W.; Rosenfeld J.; Klopocki E.; Rappold G.A.; Strom T.M.;
Hum. Mutat. 31:E1851-E1860(2010)
Cited for: VARIANTS PRO-5; VAL-101; ALA-215; PRO-261; SER-390; SER-570 AND THR-597;

Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.
Sollis E.; Graham S.A.; Vino A.; Froehlich H.; Vreeburg M.; Dimitropoulou D.; Gilissen C.; Pfundt R.; Rappold G.A.; Brunner H.G.; Deriziotis P.; Fisher S.E.;
Hum. Mol. Genet. 25:546-557(2016)
Cited for: VARIANTS MRLIAF GLY-465; CYS-514 AND ARG-534; VARIANTS THR-107; ALA-215; SER-570 AND THR-597; CHARACTERIZATION OF VARIANTS MRLIAF GLY-465; CYS-514 AND ARG-534; CHARACTERIZATION OF VARIANTS THR-107; ALA-215; SER-570 AND THR-597; FUNCTION; SELF-ASSOCIATION; SUBCELLULAR LOCATION; INTERACTION WITH FOXP2;

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.