Variant position: 273 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 301 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 FINVVKNEGITALYSGLKPT MIRAFPANGALFLAYEYSRKL
Mouse FLSIVKNEGITALYSGLKPT MIRAFPANGALFLAYEYSRKL
Rat FLSIVKNEGITALYSGLKPT MIRAFPANGALFLAYEYSRKL
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
1 – 301 Mitochondrial ornithine transporter 1
207 – 293 Solcar 3
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation.
Fecarotta S.; Parenti G.; Vajro P.; Zuppaldi A.; Della Casa R.; Carbone M.T.; Correra A.; Torre G.; Riva S.; Dionisi-Vici C.; Santorelli F.M.; Andria G.;
J. Inherit. Metab. Dis. 29:186-189(2006)
Cited for: VARIANTS HHHS CYS-113 AND LYS-273;
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.
Tessa A.; Fiermonte G.; Dionisi-Vici C.; Paradies E.; Baumgartner M.R.; Chien Y.-H.; Loguercio C.; de Baulny H.O.; Nassogne M.-C.; Schiff M.; Deodato F.; Parenti G.; Rutledge S.L.; Vilaseca M.A.; Melone M.A.B.; Scarano G.; Aldamiz-Echevarria L.; Besley G.; Walter J.; Martinez-Hernandez E.; Hernandez J.M.; Pierri C.L.; Palmieri F.; Santorelli F.M.;
Hum. Mutat. 30:741-748(2009)
Cited for: VARIANTS HHHS ARG-27; ARG-37; LEU-70; GLN-71; LEU-188; SER-216; ILE-272 AND PHE-283; CHARACTERIZATION OF VARIANTS HHHS ARG-37; GLN-71; CYS-113; ILE-272; LYS-273 AND PHE-283;
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.