Variant position: 346 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 ETLTLNGEMAVTRGQLKNGG LGVVSDAIFDLGMSLSSFNLD
Mouse ETLTLNGEMAVTRGQLKNGG LGVVSDAIFDLGMSLSSFNLD
Rat ETLTLNGEMAVTRGQLKNGG LGVVSDAIFDLGMSLSSFNLD
Chicken ETLTLNGEMAVTRGQLKNGG LGVVSDAIFDLGMSLSSFNLD
Zebrafish DTLTLNGEMAVTRGQLKNGG LGVVSDAIFDLGVSLSSFNLD
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
331 – 331 Thyroid hormone; via amide nitrogen
331 – 331 N -> S. No effect on thyroid hormone binding.
355 – 355 D -> R. Stabilizes homodimer.
344 – 348
Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor beta gene.
Rivolta C.M.; Olcese M.C.; Belforte F.S.; Chiesa A.; Gruneiro-Papendieck L.; Iorcansky S.; Herzovich V.; Cassorla F.; Gauna A.; Gonzalez-Sarmiento R.; Targovnik H.M.;
Mol. Cell. Probes 23:148-153(2009)
Cited for: VARIANTS GTHR GLY-268; ASP-331; PRO-335; PRO-341; PHE-346; MET-431; THR-447; LEU-453; THR-453 AND CYS-459;
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.