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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P36021: Variant p.Gly490Arg

Monocarboxylate transporter 8
Gene: SLC16A2
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Variant information Variant position: help 490 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 Glycine (G) to Arginine (R) at position 490 (G490R, p.Gly490Arg). 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 glycine (G) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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; loss of thyroid hormone transport. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 490 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 RNCFGDYHVAFYFAGVPPII G AVILFFVPLMHQRMFKKEQR 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                         RNCFGDYHVAFYFAGVPPIIGAVILFFVPLMHQRMFK--KEQR

Mouse                         RNCFGDYHVAFYFAGVPPIIGAVILFFVPLMHQRMFK--KE

Rat                           RNCFGNYHVAFYFAGVPPIIGAVILFFVPLMHQRMFK--KE

Zebrafish                     HDHFGNYHVAFYLAGVPPIVGGIVMFFVPLVHQRMQKRRKE
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
Transmembrane 478 – 498 Helical; Name=12
Mutagenesis 490 – 490 G -> A. No effect on thyroid hormone (TH) transport.



Literature citations
Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations.
Visser W.E.; Jansen J.; Friesema E.C.H.; Kester M.H.A.; Mancilla E.; Lundgren J.; van der Knaap M.S.; Lunsing R.J.; Brouwer O.F.; Visser T.J.;
Hum. Mutat. 30:29-38(2009)
Cited for: VARIANTS MCT8 DEFICIENCY PHE-427 DEL AND ARG-490; POSSIBLE PATHOGENIC MECHANISM OF BRAIN DEVELOPMENT; Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome.
Novara F.; Groeneweg S.; Freri E.; Estienne M.; Reho P.; Matricardi S.; Castellotti B.; Visser W.E.; Zuffardi O.; Visser T.J.;
Hum. Mutat. 38:260-264(2017)
Cited for: VARIANTS MCT8 DEFICIENCY HIS-197; ARG-490 AND GLU-490; CHARACTERIZATION OF VARIANTS MCT8 DEFICIENCY ARG-490 AND GLU-490; MUTAGENESIS OF GLY-490; FUNCTION; TRANSPORTER ACTIVITY;
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.