UniProtKB/Swiss-Prot Q9H334: Variant p.Pro215Ala

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 215 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LB/B The variants are classified into three categories: LP/P, LB/B and US.

• LP/P: likely pathogenic or pathogenic.
• LB/B: likely benign or benign.
• US: uncertain significance

Residue change: From Proline (P) to Alanine (A) at position 215 (P215A, p.Pro215Ala). 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: Change from medium size and hydrophobic (P) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: -1 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: 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.
Other resources: Links to websites of interest for the variant.

• Variant rs146606219 [ dbSNP | Ensembl ]

Sequence information

Variant position: 215 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: HLLSLQRQGLLTIQPGQPAL P LQPLAQGMIPTELQQLWKEV 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.

Type	Positions	Description
Chain	1 – 677	Forkhead box protein P1
Alternative sequence	115 – 677	Missing. In isoform 5.

Literature citations

De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.
Hamdan F.F.; Daoud H.; Rochefort D.; Piton A.; Gauthier J.; Langlois M.; Foomani G.; Dobrzeniecka S.; Krebs M.O.; Joober R.; Lafreniere R.G.; Lacaille J.C.; Mottron L.; Drapeau P.; Beauchamp M.H.; Phillips M.S.; Fombonne E.; Rouleau G.A.; Michaud J.L.;
Am. J. Hum. Genet. 87:671-678(2010)
Cited for: FUNCTION; INVOLVEMENT IN MRLIAF; VARIANTS ALA-215; MET-445; SER-570 AND ASN-613; Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia.
Vernes S.C.; MacDermot K.D.; Monaco A.P.; Fisher S.E.;
Eur. J. Hum. Genet. 17:1354-1358(2009)
Cited for: VARIANT ALA-215; 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 MRLIAF 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 THR-107; GLY-465; CYS-514; ARG-534 AND THR-597; VARIANTS ALA-215 AND SER-570; CHARACTERIZATION OF VARIANTS MRLIAF 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;