Sequence information
Variant position: 20 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 361 The length of the canonical sequence.
Location on the sequence:
MDPLGAAKPQWPWRRCLAA
L LFQLLVAVCFFSYLRVSRDD
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 MDPLGAAKPQWPWRRCLAAL LFQLLVAVCFFSYLRVSRDD
Chimpanzee MDPLGAAKPQWPWRRCLAAL LFQLLVAVCFFSYLRVSRDD
Bovine MYPPGCAKVKCSWHHCLPGL LLQLLLALCFFSYLRMSQEK
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
Chain
1 – 361
Galactoside 3(4)-L-fucosyltransferase
Transmembrane
16 – 34
Helical; Signal-anchor for type II membrane protein
Literature citations
Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS SER-5; ARG-20; ARG-68; MET-105; CYS-160; ASN-162; SER-170; ARG-223; MET-270; MET-325 AND GLN-327;
Alpha (1,3/1,4)fucosyltransferase (FucT-III) gene is inactivated by a single amino acid substitution in Lewis histo-blood type negative individuals.
Nishihara S.; Yazawa S.; Iwasaki H.; Nakazato M.; Kudo T.; Ando T.; Narimatsu H.;
Biochem. Biophys. Res. Commun. 196:624-631(1993)
Cited for: VARIANTS LE(-) ARG-20; SER-170 AND ALA-336;
Analysis of Lewis fucosyltransferase genes from the human gastric mucosa of Lewis-positive and -negative individuals.
Koda Y.; Kimura H.; Mekada E.;
Blood 82:2915-2919(1993)
Cited for: VARIANTS LE(-) ARG-20 AND SER-170;
Molecular basis for Lewis alpha(1,3/1,4)-fucosyltransferase gene deficiency (FUT3) found in Lewis-negative Indonesian pedigrees.
Mollicone R.; Reguigne I.; Kelly R.J.; Fletcher A.; Watt J.; Chatfield S.; Aziz A.; Cameron H.S.; Weston B.W.; Lowe J.B.; Oriol R.;
J. Biol. Chem. 269:20987-20994(1994)
Cited for: VARIANTS LE(-) ARG-20 AND LYS-356;
DNA sequencing and screening for point mutations in the human Lewis 'FUT3' gene enables molecular genotyping of the human Lewis blood group system.
Elmgren A.; Boerjeson C.; Svensson L.; Rydberg L.; Larson G.;
Vox Sang. 70:97-103(1996)
Cited for: VARIANTS LE(-) ARG-20; ARG-68; MET-105 AND LYS-356;
Disclaimer:
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.