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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9H334: Variant p.Arg465Gly

Forkhead box protein P1
Gene: FOXP1
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Variant information Variant position: help 465
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Glycine (G) at position 465 (R465G, p.Arg465Gly).
Physico-chemical properties: help Change from large size and basic (R) to glycine (G)
BLOSUM score: help -2
Variant description: help In IDDLA; nuclear and cytoplasmic aggregation; loss of transcriptional repression activity; loss of ability to self-associate; loss of interaction with FOXP2.
Other resources: help


Sequence information Variant position: help 465
Protein sequence length: help 677
Location on the sequence: help VPISSADIAQNQEFYKNAEV R PPFTYASLIRQAILESPEKQ
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 677 Forkhead box protein P1
DNA binding 465 – 555 Fork-head
Alternative sequence 115 – 677 Missing. In isoform 5.
Alternative sequence 450 – 450 Missing. In isoform 7.



Literature citations
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.