Variant position: 282 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 CGLQILKKEGLKAFYKGTVP RLGRVCLDVAIVFVIYDEVVK
Mouse CGLKILKNEGPKAFYKGTVP RLGRVCLDVAIVFIIYDEVVK
Rat CGVQILKNEGPKAFYKGTVP RLGRVCLDVAIVFVIYDEVVK
Bovine CGLQILRNEGLKAFYKGTVP RLGRVCLDVAIVFIIYDEVVK
Caenorhabditis elegans CAMQIWKKEGFFAFYKGTVP RLSRVCLDVGITFMIYDSIIE
Baker's yeast CFATIFKEEGLKTFWKGATP RLGRLVLSGGIVFTIYEKVLV
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;
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter.
Edvardson S.; Porcelli V.; Jalas C.; Soiferman D.; Kellner Y.; Shaag A.; Korman S.H.; Pierri C.L.; Scarcia P.; Fraenkel N.D.; Segel R.; Schechter A.; Frumkin A.; Pines O.; Saada A.; Palmieri L.; Elpeleg O.;
J. Med. Genet. 50:240-245(2013)
Cited for: VARIANTS D2L2AD ASP-130 AND HIS-282;
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.