Variant position: 247 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 GAIAGAASVFGNTPLDVIKT RMQGLEAHKYRNTWDCGLQIL
Mouse GATAGAASVFGNTPLDVIKT RMQGLEAHKYRNTLDCGLKIL
Rat GAVAGAASVFGNTPLDVIKT RMQGLEAHKYRNTLDCGVQIL
Bovine GAIAGAASVFGNTPLDVIKT RMQGLEAHKYRNTLDCGLQIL
Caenorhabditis elegans GAVAGAASVYGNTPIDVVKT RMQGLEAKKYKNTLDCAMQIW
Baker's yeast GAFSGIVTVYSTMPLDTVKT RMQSLDSTKYSSTMNCFATIF
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
218 – 303 Solcar 3
Mutations in the mitochondrial citrate carrier SLC25A1 are associated with impaired neuromuscular transmission.
Chaouch A.; Porcelli V.; Cox D.; Edvardson S.; Scarcia P.; De Grassi A.; Pierri C.L.; Cossins J.; Laval S.H.; Griffin H.; Mueller J.S.; Evangelista T.; Toepf A.; Abicht A.; Huebner A.; von der Hagen M.; Bushby K.; Straub V.; Horvath R.; Elpeleg O.; Palace J.; Senderek J.; Beeson D.; Palmieri L.; Lochmueller H.;
J. Neuromuscul. Dis. 1:75-90(2014)
Cited for: FUNCTION; INVOLVEMENT IN CMS23; VARIANT CMS23 GLN-247;
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;
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.