Sequence information
Variant position: 190 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:
YHGLSSTLLREVPGYFFFFG
G YELSRSFFASGRSKDELGPV
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 YHGLSSTLLREVPGYFFFFGG YELSRSFFASGRSKDELGPV
Mouse YHGLSSTLLREVPGYFFFFGG YELSRSFFASGRSKDELGPV
Rat YHGLSSTLLREVPGYFFFFGG YELSRSFFASGRSKDELGPI
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
Chain
1 – 301
Mitochondrial ornithine transporter 1
Repeat
104 – 197
Solcar 2
Literature citations
The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms.
Fiermonte G.; Dolce V.; David L.; Santorelli F.M.; Dionisi-Vici C.; Palmieri F.; Walker J.E.;
J. Biol. Chem. 278:32778-32783(2003)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; FUNCTION; TISSUE SPECIFICITY; CHARACTERIZATION OF VARIANTS HHHS ARG-27; PHE-188 DEL; ASP-190 AND GLN-275;
Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
Salvi S.; Dionisi-Vici C.; Bertini E.; Verardo M.; Santorelli F.M.;
Hum. Mutat. 18:460-460(2001)
Cited for: VARIANTS HHHS ARG-27; PHE-188 DEL; ASP-190 AND GLN-275;
Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Salvi S.; Santorelli F.M.; Bertini E.; Boldrini R.; Meli C.; Donati A.; Burlina A.B.; Rizzo C.; Di Capua M.; Fariello G.; Dionisi-Vici C.;
Neurology 57:911-914(2001)
Cited for: VARIANTS HHHS ARG-27; PHE-188 DEL; ASP-190 AND GLN-275;
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.