Variant position: 152 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 541 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 VELLGEPFWVL-----AQAHMFVKL KVIAESLSVILKSVLTAFLVL
Mouse VELLGEPFWVL-----AQAHMFVKL KVLAESMSVILRSVLT
Xenopus tropicalis VELLAEPFWVL-----AQAHLFVKL KVVAESLAIIIRCSVT
Caenorhabditis elegans IESIAEPFSVISLRLESKCGSLAQH FAIGQGMLICVKRIFV
Drosophila LELMAESAVFV-----AQVFCFVKL KILLNTLHILVRSAI-
Slime mold LELLSEPMYIL-----AQNLLLFKI RTTVEGFALFFKTFST
Baker's yeast VELLSEPFFIV-----NQFMLNYAA RSRFESIAVTTGCIVN
Fission yeast IELLSEPYYEV-----LQWRQKFSK TASAEGLGTIICSLLS
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 – 541 Protein RFT1 homolog
RFT1 deficiency in three novel CDG patients.
Vleugels W.; Haeuptle M.A.; Ng B.G.; Michalski J.-C.; Battini R.; Dionisi-Vici C.; Ludman M.D.; Jaeken J.; Foulquier F.; Freeze H.H.; Matthijs G.; Hennet T.;
Hum. Mutat. 30:1428-1434(2009)
Cited for: VARIANTS CDG1N CYS-67; GLU-152 AND LYS-298;
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