Variant position: 100 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 346 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 DELGETTLDAMIMDGTTMDV GAVGDLRRIKNAIGVARKVLE
Mouse DEGGETTLDAMIMDGTAMDV GAVGGLRRIKNAIGVARRVLE
Rat DEVGETTLDAMIMDGTAMDV GAVGGLRRIKNAIGVARKVLE
Caenorhabditis elegans DENGETCLDSLVIDADGMRV GAVANLHRIRDAARVAWGVMN
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
24 – 205 Glycosylasparaginase alpha chain
99 – 105
Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation.
Laitinen A.; Hietala M.; Haworth J.C.; Schroeder M.L.; Seargeant L.E.; Greenberg C.R.; Aula P.;
Clin. Genet. 51:174-178(1997)
Cited for: VARIANTS AGU GLU-100 AND SER-135;
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