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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P10253: Variant p.Gly643Arg

Lysosomal alpha-glucosidase
Gene: GAA
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Variant information Variant position: help 643 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Glycine (G) to Arginine (R) at position 643 (G643R, p.Gly643Arg). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from glycine (G) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In GSD2; infantile form. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 643 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 952 The length of the canonical sequence.
Location on the sequence: help QLASSVPEILQFNLLGVPLV G ADVCGFLGNTSEELCVRWTQ 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         QLASSVPEILQFNLLGVPLVGADVCGFLGNTSEELCVRWTQ

Mouse                         HLAYSVPDILQFNLLGVPLVGADICGFIGDTSEELCVRWTQ

Rat                           HLAYSVPEILQFNLLGVPLVGADICGFQGNTTEELCVRWTQ

Bovine                        QLSYSVPEILLFNLLGVPLVGADICGFLGNTSEELCVRWTQ
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 70 – 952 Lysosomal alpha-glucosidase
Chain 123 – 952 76 kDa lysosomal alpha-glucosidase
Chain 204 – 952 70 kDa lysosomal alpha-glucosidase
Glycosylation 652 – 652 N-linked (GlcNAc...) asparagine
Beta strand 641 – 643



Literature citations
Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II.
Hermans M.M.P.; Kroos M.A.; de Graaff E.; Oostra B.A.; Reuser A.J.J.;
Hum. Mutat. 2:268-273(1993)
Cited for: VARIANTS GSD2 ARG-643 AND TRP-725; Glycogen storage disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.
Hermans M.M.P.; Kroos M.A.; Smeitink J.A.M.; van der Ploeg A.T.; Kleijer W.J.; Reuser A.J.J.;
Hum. Mutat. 11:209-215(1998)
Cited for: VARIANTS GSD2 PRO-566; ARG-643 AND ARG-768; VARIANTS ASN-91; ARG-199 AND HIS-223; Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.
Laforet P.; Nicolino M.; Eymard P.B.; Puech J.P.; Caillaud C.; Poenaru L.; Fardeau M.;
Neurology 55:1122-1128(2000)
Cited for: VARIANTS GSD2 PRO-208; LEU-308; LEU-324; MET-585; 607-GLY--HIS-612 DEL; ARG-643 AND THR-672; 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; Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.
Pittis M.G.; Donnarumma M.; Montalvo A.L.E.; Dominissini S.; Kroos M.; Rosano C.; Stroppiano M.; Bianco M.G.; Donati M.A.; Parenti G.; D'Amico A.; Ciana G.; Di Rocco M.; Reuser A.; Bembi B.; Filocamo M.;
Hum. Mutat. 29:E27-E36(2008)
Cited for: VARIANTS GSD2 GLY-103; CYS-191; ARG-219; TRP-224; LYS-262; ARG-293; PRO-355; LEU-375; ARG-401; ASN-489; ALA-522; PRO-552; TYR-599; TRP-638; ARG-643 AND ASN-645; CHARACTERIZATION OF VARIANTS GSD2 CYS-191; LEU-375; ARG-401; ALA-522 AND TYR-599; FUNCTION; CATALYTIC ACTIVITY;
Disclaimer: 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.