Variant position: 376 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 PLMFTGYGLLFLSLVITPVI RAKLSKLVRETEQGALFSAVA
Mouse PLMFTGYGLLFLSLVTTPVI RAKLSKLVSESEQGALFSAVA
Rat PLMFTGYGLLFLSLVTTPVI RAKLSKLVSESEQGALFSAVA
Bovine PLMFTGYGLLFLSLVVTPII RAKLSRLVRQSEQGALFSALA
Xenopus laevis PIMFTGYGLRFFAMATTPVI RSKLSKMVEEGEQGALFSSVA
Zebrafish ALMFTGYGLCFLFMASTPVL RSKLSKLVDPAEQGALFASVA
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
359 – 379 Helical;
361 – 388 Missing. In isoform 2.
376 – 376 R -> ACEHQW. Abolishes folate uptake.
The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption.
Zhao R.; Min S.H.; Qiu A.; Sakaris A.; Goldberg G.L.; Sandoval C.; Malatack J.J.; Rosenblatt D.S.; Goldman I.D.;
Cited for: FUNCTION; SUBCELLULAR LOCATION; VARIANTS HFM SER-113; ARG-147; ARG-318; TRP-376 AND ARG-425;
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