Variant position: 94 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1137 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 ADLVISHAGAGSCLETLEKG KPLVVVINEKLMNNHQLELAK
Mouse ADLVISHAGAGSCLESLEKG KPLVVVVNEKLMNNHQFELAK
Rat ADLVISHAGAGSCLESLEKG KPLVVVVNEKLMNNHQFELAK
Baker's yeast SDLVISHAGTGSILDSLRLN KPLIVCVNDSLMDNHQQQIAD
Fission yeast ASIVISHAGAGSILQTLRSG KRLLVVPNESLMDNHQVELAT
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 – 1137 Putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13
1 – 125 Glycosyltransferase activity
1 – 104 Missing. In isoform 4.
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
Timal S.; Hoischen A.; Lehle L.; Adamowicz M.; Huijben K.; Sykut-Cegielska J.; Paprocka J.; Jamroz E.; van Spronsen F.J.; Korner C.; Gilissen C.; Rodenburg R.J.; Eidhof I.; Van den Heuvel L.; Thiel C.; Wevers R.A.; Morava E.; Veltman J.; Lefeber D.J.;
Hum. Mol. Genet. 21:4151-4161(2012)
Cited for: INVOLVEMENT IN EIEE36; VARIANT EIEE36 GLU-94; CHARACTERIZATION OF VARIANT EIEE36 GLU-94;
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.