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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q12948: Variant p.Thr368Asn

Forkhead box protein C1
Gene: FOXC1
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Variant information Variant position: help 368 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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 Threonine (T) to Asparagine (N) at position 368 (T368N, p.Thr368Asn). 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 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: help 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: help No effect on protein abundance; no effect on protein stability; no effect on nuclear location; no effect on transcription regulatory region DNA binding; no effect on sequence-specific DNA binding transcription factor activity. Any additional useful information about the variant.


Sequence information Variant position: help 368 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 LALGAYSPGQSSLYSSPCSQ T SSAGSSGGGGGGAGAAGGAG 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                         LALGAYSPGQSSLYSSPCSQTSSAGSSGGGGGGAGAAGGA------G

Mouse                         LALGAYSPGQSSLYSSPCSQSSSAGSSGGGGGGGGGGGGSS

Xenopus tropicalis            -SLLTYSPGQGSIYSPPCSQGTSSG----------------

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 356 – 387 Disordered
Compositional bias 356 – 375 Polar residues



Literature citations
Comparison of bioinformatics prediction, molecular modeling, and functional analyses of FOXC1 mutations in patients with Axenfeld-Rieger syndrome.
Seifi M.; Footz T.; Taylor S.A.; Walter M.A.;
Hum. Mutat. 38:169-179(2017)
Cited for: VARIANTS RIEG3 ARG-128; TYR-135 AND VAL-161; VARIANT ASN-368; CHARACTERIZATION OF VARIANTS RIEG3 ARG-128; TYR-135 AND VAL-161; CHARACTERIZATION OF VARIANT ASN-368; 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.