UniProtKB/Swiss-Prot O00358: Variant p.Arg102Cys

Forkhead box protein E1
Gene: FOXE1
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Variant information Variant position:

102 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 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:

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:

-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:

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:

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:

Links to websites of interest for the variant.

Variant rs104894111 [ dbSNP | Ensembl ]

Sequence information Variant position:

102 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

373 The length of the canonical sequence.
Location on the sequence:

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:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         FITERFPFYRDNPKKWQNSIRHNLTLNDCFLKIPREAGRPG

Mouse                         FITERFPFYRDNPKKWQNSIRHNLTLNDCFLKIPREAGRPG

Xenopus laevis                FITERFPFYRDNSKKWQNSIRHNLTLNDCFIKIPREPGRPG

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 – 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.