Variant position: 113 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 459 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 GFLVGLFSSTLLGAWSDSVG RRPLLVLASLGLLLQALVSVF
Mouse GFLVGLFWSTLLGAWSDRVG RRPLLVLASLGLLLQAVVSIF
Rat GFLVGLFWSTLLGAWSDRVG RRPLLVLASLGLLLQAVVSIF
Bovine GFLVGLFSSTLLGAWSDCVG RRPLLVLASLGLLLQTVLSIF
Xenopus laevis GFLVGLFSVMLLGPWSDKVG RRPVLMLPCIGLALQAAVYLL
Zebrafish GFLVGLFMVILLGSWSDRAG RRLVLIIPSLGLAVQAAVYLT
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 – 459 Proton-coupled folate transporter
109 – 109 D -> AGEKNS. Loss of methotrexate uptake.
A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function.
Lasry I.; Berman B.; Straussberg R.; Sofer Y.; Bessler H.; Sharkia M.; Glaser F.; Jansen G.; Drori S.; Assaraf Y.G.;
Cited for: VARIANT HFM CYS-113; CHARACTERIZATION OF VARIANT HFM CYS-113;
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