Variant position: 147 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 364 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 MITFNNLCLKYVGVAFYNVG RSLTTVFNVLLSYLLLKQTTS
Mouse MITFNNLCLKYVGVPFYNVG RSLTTVFNVLLSYLLLKQTTS
Bovine MITFNNLCLKYVGVAFYNVG RSLTTVFNVLLSYLLLKQTTS
Caenorhabditis elegans MISFNNLCLKYVGVSFYYVG RSLTTVFNVVCTYLILGQKTS
Drosophila MIGANNLSLSYVTVAFYYIG RSLTTVFSVVLTYVILRQRTS
Slime mold MVIFNNLCLEYVEVSFYQVA RSLTICFSLILTYIVLKSKTS
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 – 364 GDP-fucose transporter 1
140 – 162 Helical;
The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter.
Luehn K.; Wild M.K.; Eckhardt M.; Gerardy-Schahn R.; Vestweber D.;
Nat. Genet. 28:69-72(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); CHARACTERIZATION; VARIANT CDG2C CYS-147;
Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency.
Luebke T.; Marquardt T.; Etzioni A.; Hartmann E.; von Figura K.; Koerner C.;
Nat. Genet. 28:73-76(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS CDG2C CYS-147 AND ARG-308;
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