Variant position: 234 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 461 The length of the canonical sequence.
Location on the sequence:
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 PTDEEWELIKTVTEAHVATN AQGSHWKQKRKFL---------PEDIGQAP
Mouse PTDEEWELIKTVTEAHVATN AQGSHWKQKRKFL--------
Rat PTDEEWELIKTVTEAHVATN AQGSHWKQKRKFL--------
Chicken PTDEEWELIKIVTEAHVATN AQGSHWKQKRKFL--------
Zebrafish PTQEEWEMIRVVTEAHMATN AQGNHWKQKRKFLSAVGVKEA
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
1 – 461 Thyroid hormone receptor beta
217 – 461 NR LBD
243 – 243 R -> Q. Impairs hormone binding and ligand-dependent conformational changes.
234 – 237
Thyroid hormone receptor-beta mutations conferring hormone resistance and reduced corepressor release exhibit decreased stability in the N-terminal ligand-binding domain.
Huber B.R.; Desclozeaux M.; West B.L.; Cunha-Lima S.T.; Nguyen H.T.; Baxter J.D.; Ingraham H.A.; Fletterick R.J.;
Mol. Endocrinol. 17:107-116(2003)
Cited for: X-RAY CRYSTALLOGRAPHY (2.40 ANGSTROMS) OF 202-461 OF VARIANT GTHR THR-234; CHARACTERIZATION OF VARIANT GTHR THR-234; MUTAGENESIS OF ARG-243;
A point mutation (Ala229 to Thr) in the hinge domain of the c-erbA beta thyroid hormone receptor gene in a family with generalized thyroid hormone resistance.
Behr M.; Loos U.;
Mol. Endocrinol. 6:1119-1126(1992)
Cited for: VARIANT GTHR THR-234;
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