Variant position: 297 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 311 The length of the canonical sequence.
Location on the sequence:
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 KGTVPRLGRVCLDVAIVFVI YDEVVKLLNKVWKTD-
Mouse KGTVPRLGRVCLDVAIVFII YDEVVKLLNKVWKTD
Rat KGTVPRLGRVCLDVAIVFVI YDEVVKLLNKVWKTD
Bovine KGTVPRLGRVCLDVAIVFII YDEVVKLLNKVWKAD
Caenorhabditis elegans KGTVPRLSRVCLDVGITFMI YDSIIEFLDVYWKKQ
Baker's yeast KGATPRLGRLVLSGGIVFTI YEKVLVMLA------
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.
Type Positions Description
14 – 311 Tricarboxylate transport protein, mitochondrial
278 – 297 Helical; Name=6
218 – 303 Solcar 3
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; 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;
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.