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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P36021: Variant p.Asp379Val

Monocarboxylate transporter 8
Gene: SLC16A2
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Variant information Variant position: help 379 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 Aspartate (D) to Valine (V) at position 379 (D379V, p.Asp379Val). 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 acidic (D) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 MCT8 deficiency; impaired thyroid hormone transporter activity; does not affect localization to the cell membrane. Any additional useful information about the variant.


Sequence information Variant position: help 379 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 539 The length of the canonical sequence.
Location on the sequence: help LLVCIGATSGLGRLVSGHIS D SIPGLKKIYLQVLSFLLLGL 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                         LLVCIGATSGLGRLVSGHISDSIPGLKKIYLQVLSFLLLGL

Mouse                         LLVCIGATSGLGRLVSGHISDSIPGLKKIYLQVLSFLLLGL

Rat                           LLVCIGATSGLGRLVSGHISDSIPGLKKIYLQVLSFLLLGL

Zebrafish                     LLVCIGASSGVGRLLFGKIGDLIPGVKKIYMQVASFILLGV
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 2 – 539 Monocarboxylate transporter 8
Topological domain 378 – 386 Cytoplasmic
Mutagenesis 371 – 371 R -> A. Does not affect localization to the cell membrane. Abolishes T3 uptake activity.
Mutagenesis 376 – 376 H -> A. No effect on thyroid hormone (TH) transport.



Literature citations
Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution.
Kersseboom S.; Kremers G.J.; Friesema E.C.; Visser W.E.; Klootwijk W.; Peeters R.P.; Visser T.J.;
Mol. Endocrinol. 27:801-813(2013)
Cited for: FUNCTION; TRANSPORTER ACTIVITY; SUBCELLULAR LOCATION; VARIANTS MCT8 DEFICIENCY ARG-147; CYS-208; LEU-247; VAL-379; LEU-463 AND ASP-484; CHARACTERIZATION OF VARIANTS MCT8 DEFICIENCY ARG-147; CYS-208; LEU-247; VAL-379; LEU-463 AND ASP-484;
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.