Variant position: 170 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 507 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 ILLYPGLILIDYGHFQYNSV SLGFALWGVLGISCDCDLLGS
Mouse ILLYPGLILIDYGHFQYNSV SLGFALWGVLGVSWDWDLLGS
Rat ILLYPGLILIDYGHFQYNSV SLGFALWGVLGVSCDWDLLGS
Chicken ILLYPGLILIDHGHFQYNSV SLGFALWGVLCLSYDWDLLGS
Caenorhabditis elegans ALLYPSLLVIDNGHFQYNSI SLGLFLATYMFLTKNFTIIGS
Drosophila VAAYPGQTLIDNGHFQYNNI SLGFAAVAIAAILRRRFYAAA
Slime mold ISLQPGLLLIDHGHFQYNGV SLGLGLFAITFIIRDQQLLAS
Baker's yeast ILFQPSLMLIDHGHFQYNSV MLGLTAYAINNLLDEYYAMAA
Fission yeast VLFQPALLLIDHGHFQYNCV MLGLVMYAIANLLKNQYVAAT
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 – 507 Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.
de Lonlay P.; Seta N.; Barrot S.; Chabrol B.; Drouin V.; Gabriel B.M.; Journel H.; Kretz M.; Laurent J.; Le Merrer M.; Leroy A.; Pedespan D.; Sarda P.; Villeneuve N.; Schmitz J.; van Schaftingen E.; Matthijs G.; Jaeken J.; Koerner C.; Munnich A.; Saudubray J.-M.; Cormier-Daire V.;
J. Med. Genet. 38:14-19(2001)
Cited for: VARIANTS CDG1C ILE-170 AND LEU-444 DEL;
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