Variant position: 89 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 580 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 NGTAEAVYVPGYGLAWAQAP IGYSLSLILGGLFFAKPMRSK
Mouse NGTAEAVYGPGCGLAWAQAP IGYSLSLILGGLFFAKPMRSK
Rat NGTAEAVYGPGCGLAWAQAP IGYSLSLILGGLFFAKPMRSK
Caenorhabditis elegans NGTAEALYNG--GLLGCQAP VGYAISLVMGGLLFAKKMREE
Drosophila NGTAEAIYTS--GLVWCQAP FGYALSLVFGGIFFANPMRKQ
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 – 580 High affinity choline transporter 1
82 – 102 Helical
89 – 89 I -> A. Only 20% of wild-type choline uptake activity.
Single nucleotide polymorphism of the human high affinity choline transporter alters transport rate.
Okuda T.; Okamura M.; Kaitsuka C.; Haga T.; Gurwitz D.;
J. Biol. Chem. 277:45315-45322(2002)
Cited for: VARIANT VAL-89;
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