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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9H334: Variant p.Asn597Thr

Forkhead box protein P1
Gene: FOXP1
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Variant information Variant position: help 597
Type of variant: help US
Residue change: help From Asparagine (N) to Threonine (T) at position 597 (N597T, p.Asn597Thr).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and polar.
BLOSUM score: help 0
Variant description: help In IDDLA; uncertain significance; does not affect nuclear localization; no loss of transcriptional repression activity; no loss of ability to self-associate; no loss of interaction with FOXP2.


Sequence information Variant position: help 597
Protein sequence length: help 677
Location on the sequence: help MAENSIPLYTTASMGNPTLG N LASAIREELNGAMEHTNSNE
Sequence annotation in neighborhood: help
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 AND SER-570; VARIANT IDDLA 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 IDDLA THR-107; GLY-465; CYS-514; ARG-534 AND THR-597; VARIANTS ALA-215 AND SER-570; CHARACTERIZATION OF VARIANTS IDDLA THR-107; GLY-465; CYS-514; ARG-534 AND THR-597; CHARACTERIZATION OF VARIANTS ALA-215 AND SER-570; 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.