Variant position: 17 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 557 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 MRDYDEVTAFLGEWGP FQRLIFFLLSASIIPNGFTGL
Mouse MRDYDEVTAFLGEWGP FQRLIFFLLSASIIPNGFNGM
Rat MRDYDEVTAFLGEWGP FQRLIFFLLSASIIPNGFNGM
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 – 557 Solute carrier family 22 member 5
1 – 20 Cytoplasmic
1 – 336 Missing. In isoform 2.
Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency.
Koizumi A.; Nozaki J.; Ohura T.; Kayo T.; Wada Y.; Nezu J.; Ohashi R.; Tamai I.; Shoji Y.; Takada G.; Kibira S.; Matsuishi T.; Tsuji A.;
Hum. Mol. Genet. 8:2247-2254(1999)
Cited for: VARIANTS CDSP LEU-179; CYS-283 AND CYS-467; CHARACTERIZATION OF VARIANTS CDSP LEU-179; CYS-283 AND CYS-467;
Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5).
Urban T.J.; Gallagher R.C.; Brown C.; Castro R.A.; Lagpacan L.L.; Brett C.M.; Taylor T.R.; Carlson E.J.; Ferrin T.E.; Burchard E.G.; Packman S.; Giacomini K.M.;
Mol. Pharmacol. 70:1602-1611(2006)
Cited for: VARIANTS LEU-17; PHE-144; ASP-449; ILE-481; PHE-481; LEU-508; VAL-530 AND SER-549;
Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
Li F.-Y.; El-Hattab A.W.; Bawle E.V.; Boles R.G.; Schmitt E.S.; Scaglia F.; Wong L.-J.;
Hum. Mutat. 31:E1632-E1651(2010)
Cited for: VARIANTS CDSP SER-12; TRP-15; LEU-17; SER-32; SER-46; LEU-83; TYR-122; SER-142; TRP-169; GLN-169; PRO-186; VAL-214; HIS-227; MET-232; TRP-257; ARG-264; GLN-282; LEU-355; LEU-398; TRP-399; MET-440; ILE-442; VAL-443; ASP-449; LYS-452; ARG-455; CYS-467; CYS-488 AND SER-507; VARIANTS PRO-66; PRO-75; ALA-96; GLY-123; LEU-143; VAL-177; LEU-230; THR-240; VAL-312; ASN-358 AND SER-549;
Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening.
Lee N.-C.; Tang N.-L.; Chien Y.-H.; Chen C.-A.; Lin S.-J.; Chiu P.-C.; Huang A.-C.; Hwu W.-L.;
Mol. Genet. Metab. 100:46-50(2010)
Cited for: VARIANTS CDSP LEU-17; ARG-234; GLN-282; LEU-362; CYS-467 AND CYS-471; VARIANT LEU-143;
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.