Variant position: 116 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 289 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 LLNKRRSVRFISNEQVPMEV IDNVIRTAGTAPSGAHTEPWT
Mouse LLNKRRSVRFISSEHVPMEV IENVIKAAGTAPSGAHTEPWT
Rat LLSKRRSIRFISSEPVPMEV IDNVIKAAGTAPSGAHTEPWT
Pig LLNKRRSVRFISNERVPMEV IDNVIKAAGTAPSGAHTEPWT
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
24 – 289 Iodotyrosine deiodinase 1
24 – 214 Extracellular
128 – 128 FMN; via amide nitrogen
130 – 130 Substrate; via amide nitrogen
101 – 101 R -> A. Strongly reduces activity.
101 – 101 R -> H. Reduces activity.
105 – 105 F -> A. Activity as the wild type.
105 – 105 F -> Y. Activity as the wild type.
116 – 116 I -> V. Activity as the wild type.
113 – 123
Mutations in the iodotyrosine deiodinase gene and hypothyroidism.
Moreno J.C.; Klootwijk W.; van Toor H.; Pinto G.; D'Alessandro M.; Leger A.; Goudie D.; Polak M.; Grueters A.; Visser T.J.;
N. Engl. J. Med. 358:1811-1818(2008)
Cited for: VARIANTS TDH4 TRP-101; 105-PHE-ISO-106 DELINS LEU AND THR-116; CHARACTERIZATION OF VARIANTS TDH4 TRP-101; 105-PHE-ISO-106 DELINS LEU AND THR-116; MUTAGENESIS OF ARG-101; PHE-105 AND ILE-116; CATALYTIC ACTIVITY; FUNCTION;
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.