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UniProtKB/Swiss-Prot P53985: Variant p.Asp490Glu

Monocarboxylate transporter 1
Gene: SLC16A1
Variant information

Variant position:  490
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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:  From Aspartate (D) to Glutamate (E) at position 490 (D490E, p.Asp490Glu).
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:  Similar physico-chemical property. Both residues are medium size and acidic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  490
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  500
The length of the canonical sequence.

Location on the sequence:   VAGKPNEVTKAAESPDQKDT  D GGPKEEESPV
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                         VAGKPNEVTKAAESPDQKDTDGG------PKEEESPV--------------

Mouse                         VDEKPKETMKAAQSPQ--QHSSG-----DPT

Rat                           VDEKPKKTMKETQSPAPLQNSSG-----DPA

Bovine                        VAEKPKEVIDAAESPEHKATEE------DPK

Baker's yeast                 AKGMEDIANETGLTGKAKEALGELKELWDPS

Fission yeast                 AAGR-------GLSGTSKKALEGLPEMWDES

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.

TypePositionsDescription
Chain 1 – 500 Monocarboxylate transporter 1
Topological domain 444 – 500 Cytoplasmic
Region 454 – 500 Disordered
Compositional bias 480 – 500 Basic and acidic residues
Modified residue 483 – 483 Phosphoserine
Modified residue 498 – 498 Phosphoserine
Alternative sequence 411 – 500 RLNDMYGDYKYTYWACGVVLIISGIYLFIGMGINYRLLAKEQKANEQKKESKEEETSIDVAGKPNEVTKAAESPDQKDTDGGPKEEESPV -> IVYLPTNVGLLQNKHVRWEC. In isoform 2.


Literature citations

cDNA cloning of the human monocarboxylate transporter 1 and chromosomal localization of the SLC16A1 locus to 1p13.2-p12.
Garcia C.K.; Li X.; Luna J.; Francke U.;
Genomics 23:500-503(1994)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT GLU-490;

The full-ORF clone resource of the German cDNA consortium.
Bechtel S.; Rosenfelder H.; Duda A.; Schmidt C.P.; Ernst U.; Wellenreuther R.; Mehrle A.; Schuster C.; Bahr A.; Bloecker H.; Heubner D.; Hoerlein A.; Michel G.; Wedler H.; Koehrer K.; Ottenwaelder B.; Poustka A.; Wiemann S.; Schupp I.;
BMC Genomics 8:399-399(2007)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT GLU-490;

Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
Olsen J.V.; Blagoev B.; Gnad F.; Macek B.; Kumar C.; Mortensen P.; Mann M.;
Cell 127:635-648(2006)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-213 AND SER-498; VARIANT [LARGE SCALE ANALYSIS] GLU-490; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];

Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
Daub H.; Olsen J.V.; Bairlein M.; Gnad F.; Oppermann F.S.; Korner R.; Greff Z.; Keri G.; Stemmann O.; Mann M.;
Mol. Cell 31:438-448(2008)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-461 AND SER-498; VARIANT [LARGE SCALE ANALYSIS] GLU-490; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];

A quantitative atlas of mitotic phosphorylation.
Dephoure N.; Zhou C.; Villen J.; Beausoleil S.A.; Bakalarski C.E.; Elledge S.J.; Gygi S.P.;
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-461; SER-467; SER-483 AND SER-498; VARIANT [LARGE SCALE ANALYSIS] GLU-490; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];

Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
Olsen J.V.; Vermeulen M.; Santamaria A.; Kumar C.; Miller M.L.; Jensen L.J.; Gnad F.; Cox J.; Jensen T.S.; Nigg E.A.; Brunak S.; Mann M.;
Sci. Signal. 3:RA3-RA3(2010)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-213; SER-483 AND SER-498; VARIANT [LARGE SCALE ANALYSIS] GLU-490; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];

System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
Rigbolt K.T.; Prokhorova T.A.; Akimov V.; Henningsen J.; Johansen P.T.; Kratchmarova I.; Kassem M.; Mann M.; Olsen J.V.; Blagoev B.;
Sci. Signal. 4:RS3-RS3(2011)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-213; THR-466; SER-483 AND SER-498; VARIANT [LARGE SCALE ANALYSIS] GLU-490; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];

Toward a comprehensive characterization of a human cancer cell phosphoproteome.
Zhou H.; Di Palma S.; Preisinger C.; Peng M.; Polat A.N.; Heck A.J.; Mohammed S.;
J. Proteome Res. 12:260-271(2013)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-461; THR-466; SER-467; SER-483 AND SER-498; VARIANT [LARGE SCALE ANALYSIS] GLU-490; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];

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;

Initial characterization of the human central proteome.
Burkard T.R.; Planyavsky M.; Kaupe I.; Breitwieser F.P.; Buerckstuemmer T.; Bennett K.L.; Superti-Furga G.; Colinge J.;
BMC Syst. Biol. 5:17-17(2011)
Cited for: VARIANT [LARGE SCALE ANALYSIS] GLU-490; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];

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.