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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O00358: Variant p.Arg102Cys

Forkhead box protein E1
Gene: FOXE1
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Variant information Variant position: help 102 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Cysteine (C) at position 102 (R102C, p.Arg102Cys). 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 large size and basic (R) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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

Polymorphism: help An alanine stretch that varies from 12 to 19 residues is present. This polymorphisms can be used as a marker to study the role of FOXE1 in other cases of thyroid dysgenesis, especially in familial cases. Additional information on the polymorphism described.
Variant description: help In congenital hypothyroidism; with absence of thyroid agenesis; loss of sequence-specific DNA binding; loss of transcriptional activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 102 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 373 The length of the canonical sequence.
Location on the sequence: help FITERFPFYRDNPKKWQNSI R HNLTLNDCFLKIPREAGRPG 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                         FITERFPFYRDNPKKWQNSIRHNLTLNDCFLKIPREAGRPG

Mouse                         FITERFPFYRDNPKKWQNSIRHNLTLNDCFLKIPREAGRPG

Xenopus laevis                FITERFPFYRDNSKKWQNSIRHNLTLNDCFIKIPREPGRPG

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 – 373 Forkhead box protein E1
DNA binding 53 – 147 Fork-head



Literature citations
MSX1 and TGF-beta3 are novel target genes functionally regulated by FOXE1.
Venza I.; Visalli M.; Parrillo L.; De Felice M.; Teti D.; Venza M.;
Hum. Mol. Genet. 20:1016-1025(2011)
Cited for: FUNCTION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS BAMLAZ ASN-57 AND VAL-65; CHARACTERIZATION OF VARIANTS CONGENITAL HYPOTHYROIDISM CYS-102 AND SER-137; A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis.
Baris I.; Arisoy A.E.; Smith A.; Agostini M.; Mitchell C.S.; Park S.M.; Halefoglu A.M.; Zengin E.; Chatterjee V.K.; Battaloglu E.;
J. Clin. Endocrinol. Metab. 91:4183-4187(2006)
Cited for: VARIANT CONGENITAL HYPOTHYROIDISM CYS-102; CHARACTERIZATION OF VARIANT CONGENITAL HYPOTHYROIDISM CYS-102; FUNCTION;
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.