Variant position: 348 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 388 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 KVVSLKPEVAQVDLYILGQA DHFIGNCVSSFTAFVKRERDL
Chimpanzee KVVSLKPEVAQVDLYILGQA DHFIGNCVSSFTAFVKRERDL
Mouse RVVSLKPEVAQIDLYILGQA DHFIGNCVSSFTAFVKRERDL
Rat KVVSLKPEVAQIDLYILGQA DHFIGNCVSSFTAFVKRERDL
Caenorhabditis elegans EAHRQEPDDMYTSLAIMGRA DLFVGNCVSTFSHIVKRERDH
Drosophila SVHKLPEDDPYLDLAILGQS NHFIGNCISSYSAFEKRERDV
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
27 – 388 GDP-fucose protein O-fucosyltransferase 1
340 – 340 Substrate
267 – 354
182 – 388 FSPKEHPVLALPGAPAQFPVLEEHRPLQKYMVWSDEMVKTGEAQIHAHLVRPYVGIHLRIGSDWKNACAMLKDGTAGSHFMASPQCVGYSRSTAAPLTMTMCLPDLKEIQRAVKLWVRSLDAQSVYVATDSESYVPELQQLFKGKVKVVSLKPEVAQVDLYILGQADHFIGNCVSSFTAFVKRERDLQGRPSSFFGMDRPPKLRDEF -> RENHSCVTLLFPR. In isoform 2.
356 – 356 S -> F. Abolishes ability to activate NOTCH signaling.
366 – 366 R -> W. Strongly impaired ability to activate NOTCH signaling.
347 – 352
No reference for the current variant in UniProtKB/Swiss-Prot.
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.