Variant position: 549 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 SEDGCPNNELENPPYVPGVV GGTLQAATICASSHQFLSTHY
Mouse SQQGCPNNELENPPYVPGVV GGILQAATICASSHQFLSTHY
Rat SQQGCPDNELENPPYVPGVV GGALQAATICASSHQFLSTHY
Bovine SVDGCPDNSLENPPYLPGVV GGTLRAATICASSHQFLSTHY
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
533 – 558
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.
Hermans M.M.P.; van Leenen D.; Kroos M.A.; Beesley C.E.; Van der Ploeg A.T.; Sakuraba H.; Wevers R.; Kleijer W.J.; Michelakakis H.; Kirk E.P.; Fletcher J.; Bosshard N.; Basel-Vanagaite L.; Besley G.; Reuser A.J.J.;
Hum. Mutat. 23:47-56(2004)
Cited for: VARIANTS GSD2 GLY-103; ARG-219; ARG-285; CYS-292; ARG-293; PRO-308; ARG-312; PRO-355; ARG-374; PRO-405; PHE-455; ASP-459 DEL; ARG-478; ARG-481; THR-519; LEU-545; ARG-549; PRO-552; SER-575; LYS-579; CYS-600; ASP-607 AND ASP-880; CHARACTERIZATION OF VARIANTS; FUNCTION;
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
Montalvo A.L.; Bembi B.; Donnarumma M.; Filocamo M.; Parenti G.; Rossi M.; Merlini L.; Buratti E.; De Filippi P.; Dardis A.; Stroppiano M.; Ciana G.; Pittis M.G.;
Hum. Mutat. 27:999-1006(2006)
Cited for: VARIANTS GSD2 ARG-309; PRO-355; LEU-361; PRO-445; ASN-489; ARG-549; GLN-612; ARG-643; TRP-672 AND CYS-746;
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.