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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y619: Variant p.Glu180Lys

Mitochondrial ornithine transporter 1
Gene: SLC25A15
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Variant information Variant position: help 180 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 Glutamate (E) to Lysine (K) at position 180 (E180K, p.Glu180Lys). 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 medium size and acidic (E) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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 HHHS; does not affect mitochondrial localization. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 180 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 301 The length of the canonical sequence.
Location on the sequence: help ILRKDGPLGFYHGLSSTLLR E VPGYFFFFGGYELSRSFFAS 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                         ILRKDGPLGFYHGLSSTLLREVPGYFFFFGGYELSRSFFAS

Mouse                         IFRKDGPLGFYHGLSSTLLREVPGYFFFFGGYELSRSFFAS

Rat                           IFRKDGPLGFYHGLSSTLLREVPGYFFFFGGYELSRSFFAS
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 – 301 Mitochondrial ornithine transporter 1
Transmembrane 168 – 188 Helical; Name=4
Repeat 104 – 197 Solcar 2
Mutagenesis 179 – 301 Missing. Incapable of catalyzing homo-exchanges of ornithine, arginine, lysine and citrulline.
Mutagenesis 179 – 179 R -> K. Reduced uptake rate for ornithine transport. Favors the transport of L-arginine and L-lysine with respect to that of L-ornithine.
Mutagenesis 179 – 179 R -> Q. Substrate specificities are markedly altered. Vmax value is 14-fold lower for ornithine as substrate.
Mutagenesis 180 – 180 E -> D. Substrate specificities are markedly altered. Vmax value is 14-fold lower for ornithine as substrate. Decreased strongly L-ornithine transport but not L-arginine and L-lysine transport.



Literature citations
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.
Camacho J.A.; Obie C.; Biery B.; Goodman B.K.; Hu A.; Almashanu S.; Steel G.; Casey R.; Lombard M.; Mitchell G.A.; Valle D.;
Nat. Genet. 22:151-158(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; SUBCELLULAR LOCATION; VARIANTS HHHS LYS-180 AND PHE-188 DEL; CHARACTERIZATION OF VARIANTS HHHS LYS-180 AND PHE-188 DEL;
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.