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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q05940: Variant p.Pro387Leu

Synaptic vesicular amine transporter
Gene: SLC18A2
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Variant information Variant position: help 387 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 Proline (P) to Leucine (L) at position 387 (P387L, p.Pro387Leu). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. 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 PKDYS2; strong decrease in serotonin transport. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 387 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 514 The length of the canonical sequence.
Location on the sequence: help IVGVSILCIPFAKNIYGLIA P NFGVGFAIGMVDSSMMPIMG 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                         IVGVSILCIPFAKNIYGLIAPNFGVGFAIGMVDSSMMPIMG

Mouse                         VVGISILCIPFAKNIYGLIAPNFGVGFAIGMVDSSMMPIMG

Rat                           IVGISILCIPFAKNIYGLIAPNFGVGFAIGMVDSSMMPIMG

Bovine                        IVGMSILCIPLAKNIYGLIAPNFGVGFAIGMVDSSMMPIMG
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 – 514 Synaptic vesicular amine transporter
Topological domain 379 – 389 Lumenal, vesicle
Binding site 399 – 399
Alternative sequence 210 – 514 Missing. In isoform 2.
Mutagenesis 395 – 395 I -> A. Reduces binding to reserpine.
Mutagenesis 399 – 399 D -> AN. Abolishes dopamine uptake.
Mutagenesis 403 – 403 M -> A. Reduces binding to reserpine. Reduces dopamine uptake.
Helix 381 – 413



Literature citations
Brain dopamine-serotonin vesicular transport disease and its treatment.
Rilstone J.J.; Alkhater R.A.; Minassian B.A.;
N. Engl. J. Med. 368:543-550(2013)
Cited for: INVOLVEMENT IN PKDYS2; VARIANT PKDYS2 LEU-387; FUNCTION; TRANSPORT ACTIVITY; BIOPHYSICOCHEMICAL PROPERTIES; CHARACTERIZATION OF VARIANT PKDYS2 LEU-387;
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.