Variant position: 317 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 PCEDQIILLKGCCMEIMSLR AAVRYDPESETLTLNGEMAVT
Mouse PCEDQIILLKGCCMEIMSLR AAVRYDPDSETLTLNGEMAVT
Rat PCEDQIILLKGCCMEIMSLR AAVRYDPDSETLTLNGEMAVT
Chicken PCEDQIILLKGCCMEIMSLR AAVRYDPESETLTLNGEMAVT
Zebrafish PCEDQIILLKGCCMEIMSLR AAVRYDPESDTLTLNGEMAVT
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
244 – 461 Interaction with NR2F6
320 – 320 Thyroid hormone
331 – 331 Thyroid hormone; via amide nitrogen
331 – 331 N -> S. No effect on thyroid hormone binding.
298 – 318
Two resistance to thyroid hormone mutants with impaired hormone binding.
Huber B.R.; Sandler B.; West B.L.; Cunha Lima S.T.; Nguyen H.T.; Apriletti J.W.; Baxter J.D.; Fletterick R.J.;
Mol. Endocrinol. 17:643-652(2003)
Cited for: X-RAY CRYSTALLOGRAPHY (2.40 ANGSTROMS) OF 202-461 OF VARIANT PTHR HIS-316 AND VARIANT GTHR THR-317; CHARACTERIZATION OF VARIANT PTHR HIS-316; CHARACTERIZATION OF VARIANT GTHR THR-317;
Characterization of seven novel mutations of the c-erbA beta gene in unrelated kindreds with generalized thyroid hormone resistance. Evidence for two 'hot spot' regions of the ligand binding domain.
Parrilla R.; Mixson A.J.; McPherson J.A.; McClaskey J.H.; Weintraub B.D.;
J. Clin. Invest. 88:2123-2130(1991)
Cited for: VARIANTS GTHR THR-317; ARG-332; VAL-345; GLU-347; VAL-442 AND THR-453;
Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families.
Weiss R.E.; Weinberg M.; Refetoff S.;
J. Clin. Invest. 91:2408-2415(1993)
Cited for: VARIANTS GTHR THR-317; CYS-320; HIS-320; TRP-338; HIS-438 AND THR-453;
Rapid molecular diagnosis of mutations associated with generalized thyroid hormone resistance by PCR-coupled automated direct sequencing of genomic DNA: detection of two novel mutations.
Seto D.; Weintraub B.D.;
Hum. Mutat. 8:247-257(1996)
Cited for: VARIANTS GTHR THR-317; TRP-338; ILE-342 AND GLU-348;
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