Variant position: 345 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 SETLTLNGEMAVTRGQLKNG GLGVVSDAIFDLGMSLSSFNL
Mouse SETLTLNGEMAVTRGQLKNG GLGVVSDAIFDLGMSLSSFNL
Rat SETLTLNGEMAVTRGQLKNG GLGVVSDAIFDLGMSLSSFNL
Chicken SETLTLNGEMAVTRGQLKNG GLGVVSDAIFDLGMSLSSFNL
Zebrafish SDTLTLNGEMAVTRGQLKNG GLGVVSDAIFDLGVSLSSFNL
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
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;
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.