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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P53007: Variant p.Gly130Asp

Tricarboxylate transport protein, mitochondrial
Gene: SLC25A1
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Variant information Variant position: help 130
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Aspartate (D) at position 130 (G130D, p.Gly130Asp).
Physico-chemical properties: help Change from glycine (G) to medium size and acidic (D)
BLOSUM score: help -1
Variant description: help In D2L2AD; severely reduced rates of citrate transport.
Other resources: help


Sequence information Variant position: help 130
Protein sequence length: help 311
Location on the sequence: help NHMRDAQGRLDSTRGLLCGL G AGVAEAVVVVCPMETIKVKF
Residue conservation: help
Human                         NHMRDAQ-GRLDSTRGLLCGLGAGVAEAVVVVCPMETIKVKF

Mouse                         NHMRDAQ-GRLDSRRGLLCGLGAGVAEAVVVVCPMETIKVK

Rat                           NHMRDAQ-GRLDSRRGLLCGLGAGVAEAVVVVCPMETVKVK

Bovine                        NHMRDAQ-GRLDSTRGLLCGLGAGVPEAVVVVCPMETIKVK

Caenorhabditis elegans        SQAADER-GNLSPVMRLLCGLGAGLSEAVFAVTPMETVKVK

Baker's yeast                 DMLRDSETGELSGTRGVIAGLGAGLLESVAAVTPFEAIKTA

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 14 – 311 Tricarboxylate transport protein, mitochondrial
Transmembrane 129 – 143 Helical; Name=3
Repeat 122 – 208 Solcar 2



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; 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;
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.