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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P53007: Variant p.Pro45Leu

Tricarboxylate transport protein, mitochondrial
Gene: SLC25A1
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Variant information Variant position: help 45 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 45 (P45L, p.Pro45Leu). 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 D2L2AD; severely reduced rates of citrate transport. Any additional useful information about the variant.


Sequence information Variant position: help 45 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 311 The length of the canonical sequence.
Location on the sequence: help PGKAILAGGLAGGIEICITF P TEYVKTQLQLDERSHPPRYR 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                         PGKAILAGGLAGGIEICITFPTEYVKTQLQLDERSHPPRYR

Mouse                         PGKAILAGGLAGGIEICITFPTEYVKTQLQLDERANPPRYR

Rat                           PGKAILAGGLAGGIEICITFPTEYVKTQLQLDERANPPRYR

Bovine                        PGKAILAGGLAGGIEICITFPTEYVKTQLQLDERSHPPRYR

Caenorhabditis elegans        RG--IVIGGITGGIEICITFPTEYVKTQLQLDERSATPKFR

Baker's yeast                 ---SFLAGSLAGAAEACITYPFEFAKTRLQLIDKASKAS-R
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 14 – 311 Tricarboxylate transport protein, mitochondrial
Transmembrane 29 – 46 Helical; Name=1
Repeat 23 – 111 Solcar 1



Literature citations
Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis.
Majd H.; King M.S.; Smith A.C.; Kunji E.R.S.;
Biochim. Biophys. Acta 1859:1-7(2018)
Cited for: FUNCTION; TRANSPORTER ACTIVITY; BIOPHYSICOCHEMICAL PROPERTIES; CHARACTERIZATION OF VARIANTS D2L2AD LEU-45; ASP-130; GLN-144; TRP-193; HIS-198; THR-202; CYS-282; GLY-282; HIS-282 AND CYS-297; CHARACTERIZATION OF VARIANT CMS23 GLN-247; Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.
Nota B.; Struys E.A.; Pop A.; Jansen E.E.; Fernandez Ojeda M.R.; Kanhai W.A.; Kranendijk M.; van Dooren S.J.; Bevova M.R.; Sistermans E.A.; Nieuwint A.W.; Barth M.; Ben-Omran T.; Hoffmann G.F.; de Lonlay P.; McDonald M.T.; Meberg A.; Muntau A.C.; Nuoffer J.M.; Parini R.; Read M.H.; Renneberg A.; Santer R.; Strahleck T.; van Schaftingen E.; van der Knaap M.S.; Jakobs C.; Salomons G.S.;
Am. J. Hum. Genet. 92:627-631(2013)
Cited for: VARIANTS D2L2AD LEU-45; GLN-144; ARG-167; TRP-193; THR-202; 256-TYR--ASP-311 DEL; CYS-282; GLY-282 AND CYS-297; CHARACTERIZATION OF VARIANT D2L2AD 256-TYR--ASP-311 DEL; Expanding the clinical spectrum of mitochondrial citrate carrier (SLC25A1) deficiency: Facial dysmorphism in siblings with epileptic encephalopathy and combined D,L-2-hydroxyglutaric aciduria.
Prasun P.; Young S.; Salomons G.; Werneke A.; Jiang Y.H.; Struys E.; Paige M.; Avantaggiati M.L.; McDonald M.;
JIMD Rep. 19:111-115(2015)
Cited for: VARIANT D2L2AD LEU-45;
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.