Variant position: 243 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 KTVTEAHVATNAQGSHWKQK RKFL---------PEDIGQAPIVNAPEGGK
Mouse KTVTEAHVATNAQGSHWKQK RKFL---------PEDIGQAP
Rat KTVTEAHVATNAQGSHWKQK RKFL---------PEDIGQAP
Chicken KIVTEAHVATNAQGSHWKQK RKFL---------PEDIGQAP
Zebrafish RVVTEAHMATNAQGNHWKQK RKFLSAVGVKEAKPEDIGSAP
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.
New point mutation (R243W) in the hormone binding domain of the c-erbA beta 1 gene in a family with generalized resistance to thyroid hormone.
Pohlenz J.; Schoenberger W.; Wemme H.; Winterpacht A.; Wirth S.; Zabel B.;
Hum. Mutat. 7:79-81(1996)
Cited for: VARIANT GTHR TRP-243;
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