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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q12948: Variant p.Pro297Ser

Forkhead box protein C1
Gene: FOXC1
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Variant information Variant position: help 297 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Proline (P) to Serine (S) at position 297 (P297S, p.Pro297Ser). 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: help Change from medium size and hydrophobic (P) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In ASGD3; no effect on protein abundance; increased protein stability; no effect on nuclear location; no effect on transcription regulatory region DNA binding; decreased sequence-specific DNA binding transcription factor activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 297 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 553 The length of the canonical sequence.
Location on the sequence: help LPSARPLSLDGADSAPPPPA P SAPPPHHSQGFSVDNIMTSL 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LPSARPLSLDGADSAPPPPAPSAPPPHHSQGFSVDNIMTSL

Mouse                         LPSARPLSLDAAEPAPPP--QPAPPPHHSQGFSVDNIMTSL

Xenopus tropicalis            IPSNRSMSLEAAESHHPH-----QQHHHSQGFSVDNIMTSL
Sequence annotation in neighborhood: help 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 – 553 Forkhead box protein C1
Region 173 – 310 Disordered
Region 215 – 366 Required for transcriptional inhibition
Compositional bias 288 – 302 Pro residues



Literature citations
Characterization of a novel FOXC1 mutation, P297S, identified in two individuals with anterior segment dysgenesis.
Fetterman C.D.; Mirzayans F.; Walter M.A.;
Clin. Genet. 76:296-299(2009)
Cited for: VARIANT ASGD3 SER-297; CHARACTERIZATION OF VARIANT ASGD3 SER-297; FUNCTION; SUBCELLULAR LOCATION;
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.