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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q6PHW0: Variant p.Ile116Thr

Iodotyrosine deiodinase 1
Gene: IYD
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Variant information Variant position: help 116 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Isoleucine (I) to Threonine (T) at position 116 (I116T, p.Ile116Thr). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and hydrophobic (I) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description: help In TDH4; strongly reduces activity; marginally respond to the increase of flavin mononucleotide concentration; reduces protein stability. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 116 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 289 The length of the canonical sequence.
Location on the sequence: help LLNKRRSVRFISNEQVPMEV I DNVIRTAGTAPSGAHTEPWT 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         LLNKRRSVRFISNEQVPMEVIDNVIRTAGTAPSGAHTEPWT

Mouse                         LLNKRRSVRFISSEHVPMEVIENVIKAAGTAPSGAHTEPWT

Rat                           LLSKRRSIRFISSEPVPMEVIDNVIKAAGTAPSGAHTEPWT

Pig                           LLNKRRSVRFISNERVPMEVIDNVIKAAGTAPSGAHTEPWT

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 289 Iodotyrosine deiodinase 1
Binding site 128 – 128
Binding site 130 – 130
Mutagenesis 101 – 101 R -> A. Strongly reduces activity.
Mutagenesis 101 – 101 R -> H. Reduces activity.
Mutagenesis 105 – 105 F -> A. Activity as the wild type.
Mutagenesis 105 – 105 F -> Y. Activity as the wild type.
Mutagenesis 116 – 116 I -> V. Activity as the wild type.
Helix 113 – 123



Literature citations
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-ILE-106 DELINS LEU AND THR-116; CHARACTERIZATION OF VARIANTS TDH4 TRP-101; 105-PHE-ILE-106 DELINS LEU AND THR-116; MUTAGENESIS OF ARG-101; PHE-105 AND ILE-116; CATALYTIC ACTIVITY; FUNCTION;
Disclaimer: 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.