Variant position: 478 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 VRNMGVGVSSTASRLGSILS PYFVYLGAYDRFLPYILMGSL
Mouse VRNMGVGVSSTASRLGSILS PYFVYLGAYDRFLPYILMGSL
Rat VRNMGVGVSSTASRLGSILS PYFVYLGAYDRFLPYILMGSL
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
463 – 483 Helical; Name=11
486 – 486 Phosphotyrosine
Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency.
Tang N.L.; Ganapathy V.; Wu X.; Hui J.; Seth P.; Yuen P.M.; Wanders R.J.; Fok T.F.; Hjelm N.M.;
Hum. Mol. Genet. 8:655-660(1999)
Cited for: VARIANT CDSP LEU-478;
Mutations in novel organic cation transporter (OCTN2), an organic cation/carnitine transporter, with differential effects on the organic cation transport function and the carnitine transport function.
Seth P.; Wu X.; Huang W.; Leibach F.H.; Ganapathy V.;
J. Biol. Chem. 274:33388-33392(1999)
Cited for: CHARACTERIZATION OF VARIANT CDSP LEU-478; MUTAGENESIS;
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