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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P53985: Variant p.Gly472Arg

Monocarboxylate transporter 1
Gene: SLC16A1
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Variant information Variant position: help 472 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 472 (G472R, p.Gly472Arg). 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 SDLT. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 472 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 500 The length of the canonical sequence.
Location on the sequence: help QKANEQKKESKEEETSIDVA G KPNEVTKAAESPDQKDTDGG 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.
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 – 500 Monocarboxylate transporter 1
Topological domain 444 – 500 Cytoplasmic
Region 454 – 500 Disordered
Modified residue 461 – 461 Phosphoserine
Modified residue 466 – 466 Phosphothreonine
Modified residue 467 – 467 Phosphoserine
Modified residue 483 – 483 Phosphoserine
Alternative sequence 411 – 500 RLNDMYGDYKYTYWACGVVLIISGIYLFIGMGINYRLLAKEQKANEQKKESKEEETSIDVAGKPNEVTKAAESPDQKDTDGGPKEEESPV -> IVYLPTNVGLLQNKHVRWEC. In isoform 2.



Literature citations
Mutations in MCT1 cDNA in patients with symptomatic deficiency in lactate transport.
Merezhinskaya N.; Fishbein W.N.; Davis J.I.; Foellmer J.W.;
Muscle Nerve 23:90-97(2000)
Cited for: VARIANTS SDLT GLU-204 AND ARG-472; VARIANT GLU-490;
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.