Variant position: 519 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 952 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 WEDMVAEFHDQVPFDGMWID MNEPSNFIRGSEDGCPNNELE
Mouse WQDMVSEFHAQVPFDGMWLD MNEPSNFVRGSQQGCPNNELE
Rat WQDMVSEFHAQVPFDGMWID MNEPSNFIRGSQQGCPDNELE
Bovine WQDMVTEFHAQVPFDGMWID MNEPSNFVRGSVDGCPDNSLE
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
70 – 952 Lysosomal alpha-glucosidase
123 – 952 76 kDa lysosomal alpha-glucosidase
204 – 952 70 kDa lysosomal alpha-glucosidase
518 – 518 Nucleophile
521 – 521
516 – 516 W -> R. Loss of activity.
518 – 518 D -> GNE. Loss of activity.
Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease).
Huie M.L.; Hirschhorn R.; Chen A.S.; Martiniuk F.; Zhong N.;
Hum. Mutat. 4:291-293(1994)
Cited for: VARIANT GSD2 VAL-519;
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