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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q495M3: Variant p.Gly87Val

Proton-coupled amino acid transporter 2
Gene: SLC36A2
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Variant information Variant position: help 87 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 Valine (V) at position 87 (G87V, p.Gly87Val). 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 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 HG and IG; no effect on localization to the plasma membrane; decreased amino acid:proton symporter activity; no effect on protein reaction kinetics; decreased affinity for proline; 3-fold increase of Km value for proline; decreased affinity for glycine; 5-fold increase of Km for glycine. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 87 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 483 The length of the canonical sequence.
Location on the sequence: help NMGTGILGLPLAVKNAGILM G PLSLLVMGFIACHCMHILVK 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                         NMGTGILGLPLAVKNAGILMGPLSLLVMGFIACHCMHILVK

Mouse                         NMGTGILGLPLAVKNAGILMGPLSLLVMGLIACHCMHILVR

Rat                           NMGTGILGLPLAVKNAGILMGPLSLLVMGLIACHCMHILVR
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 – 483 Proton-coupled amino acid transporter 2
Transmembrane 82 – 102 Helical
Alternative sequence 1 – 276 Missing. In isoform 3.
Alternative sequence 1 – 198 Missing. In isoform 2.



Literature citations
Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters.
Broer S.; Bailey C.G.; Kowalczuk S.; Ng C.; Vanslambrouck J.M.; Rodgers H.; Auray-Blais C.; Cavanaugh J.A.; Broer A.; Rasko J.E.;
J. Clin. Invest. 118:3881-3892(2008)
Cited for: VARIANT IG VAL-87; VARIANT HG VAL-87; CHARACTERIZATION OF VARIANT HG VAL-87; FUNCTION; TRANSPORTER ACTIVITY; SUBCELLULAR LOCATION; TISSUE SPECIFICITY;
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.