Variant position: 316 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 LPCEDQIILLKGCCMEIMSL RAAVRYDPESETLTLNGEMAV
Mouse LPCEDQIILLKGCCMEIMSL RAAVRYDPDSETLTLNGEMAV
Rat LPCEDQIILLKGCCMEIMSL RAAVRYDPDSETLTLNGEMAV
Chicken LPCEDQIILLKGCCMEIMSL RAAVRYDPESETLTLNGEMAV
Zebrafish LPCEDQIILLKGCCMEIMSL RAAVRYDPESDTLTLNGEMAV
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 – 319
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;
An arginine to histidine mutation in codon 311 of the C-erbA beta gene results in a mutant thyroid hormone receptor that does not mediate a dominant negative phenotype.
Geffner M.E.; Su F.; Ross N.S.; Hershman J.M.; van Dop C.; Menke J.B.; Hao E.; Stanzak R.K.; Eaton T.; Samuels H.H.; Usala S.J.;
J. Clin. Invest. 91:538-546(1993)
Cited for: VARIANT PRTH HIS-316;
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.