Variant position: 338 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 AVRYDPESETLTLNGEMAVT RGQLKNGGLGVVSDAIFDLGM
Mouse AVRYDPDSETLTLNGEMAVT RGQLKNGGLGVVSDAIFDLGM
Rat AVRYDPDSETLTLNGEMAVT RGQLKNGGLGVVSDAIFDLGM
Chicken AVRYDPESETLTLNGEMAVT RGQLKNGGLGVVSDAIFDLGM
Zebrafish AVRYDPESDTLTLNGEMAVT RGQLKNGGLGVVSDAIFDLGV
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.
355 – 355 D -> R. Stabilizes homodimer.
338 – 343
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;
Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone.
Mamanasiri S.; Yesil S.; Dumitrescu A.M.; Liao X.-H.; Demir T.; Weiss R.E.; Refetoff S.;
J. Clin. Endocrinol. Metab. 91:3471-3477(2006)
Cited for: VARIANT GTHR TRP-338;
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.