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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P10253: Variant p.Cys647Trp

Lysosomal alpha-glucosidase
Gene: GAA
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Variant information Variant position: help 647 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 Cysteine (C) to Tryptophan (W) at position 647 (C647W, p.Cys647Trp). 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 medium size and polar (C) to large size and aromatic (W) 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. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 647 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 SVPEILQFNLLGVPLVGADV C GFLGNTSEELCVRWTQLGAF 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                         SVPEILQFNLLGVPLVGADVCGFLGNTSEELCVRWTQLGAF

Mouse                         SVPDILQFNLLGVPLVGADICGFIGDTSEELCVRWTQLGAF

Rat                           SVPEILQFNLLGVPLVGADICGFQGNTTEELCVRWTQLGAF

Bovine                        SVPEILLFNLLGVPLVGADICGFLGNTSEELCVRWTQLGAF
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
Disulfide bond 647 – 658



Literature citations
A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).
Huie M.L.; Chen A.S.; Brooks S.S.; Grix A.; Hirschhorn R.;
Hum. Mol. Genet. 3:1081-1087(1994)
Cited for: VARIANT GSD2 TRP-647; Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.
Huie M.L.; Tsujino S.; Brooks S.S.; Engel A.; Elias E.; Bonthron D.T.; Bessley C.; Shanske S.; Dimauro S.; Goto Y.; Hirschhorn R.;
Biochem. Biophys. Res. Commun. 244:921-927(1998)
Cited for: VARIANTS GSD2 ASN-645; TRP-647; SER-648; GLN-672 AND TRP-672; Novel GAA mutations in patients with Pompe disease.
Turaca L.T.; de Faria D.O.; Kyosen S.O.; Teixeira V.D.; Motta F.L.; Pessoa J.G.; Rodrigues E Silva M.; de Almeida S.S.; D'Almeida V.; Munoz Rojas M.V.; Martins A.M.; Pesquero J.B.;
Gene 561:124-131(2015)
Cited for: VARIANTS GSD2 VAL-391; HIS-437; PRO-552; ASP-611; VAL-641; TRP-647 AND PRO-705; VARIANTS ASN-91; ARG-199; HIS-223; SER-576; LYS-689; ILE-780 AND ILE-816;
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.