Variant position: 320 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 DQIILLKGCCMEIMSLRAAV RYDPESETLTLNGEMAVTRGQ
Mouse DQIILLKGCCMEIMSLRAAV RYDPDSETLTLNGEMAVTRGQ
Rat DQIILLKGCCMEIMSLRAAV RYDPDSETLTLNGEMAVTRGQ
Chicken DQIILLKGCCMEIMSLRAAV RYDPESETLTLNGEMAVTRGQ
Zebrafish DQIILLKGCCMEIMSLRAAV RYDPESDTLTLNGEMAVTRGQ
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.
An arginine to histidine mutation in codon 315 of the c-erbA beta thyroid hormone receptor in a kindred with generalized resistance to thyroid hormones results in a receptor with significant 3,5,3'-triiodothyronine binding activity.
Cugini C.D. Jr.; Leidy J.W. Jr.; Chertow B.S.; Berard J.; Bradley W.E.C.; Menke J.B.; Hao E.-H.; Usala S.J.;
J. Clin. Endocrinol. Metab. 74:1164-1170(1992)
Cited for: VARIANT GTHR HIS-320;
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;
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.