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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P10253: Variant p.Arg702Cys

Lysosomal alpha-glucosidase
Gene: GAA
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Variant information Variant position: help 702 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 Arginine (R) to Cysteine (C) at position 702 (R702C, p.Arg702Cys). 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 large size and basic (R) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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; no enzymatic activity; shows enzyme localization primarily in the ER-Golgi compartment suggesting that mutation could affect the normal processing and stability of the enzyme. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 702 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 QEPYSFSEPAQQAMRKALTL R YALLPHLYTLFHQAHVAGET 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                         QEPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAGET

Mouse                         QEPYRFSETAQQAMRKAFALRYALLPYLYTLFHRAHVRGDT

Rat                           QEPYRFSETAQQAMRKAFTLRYALLPYLYTLFHGAHVKGDT

Bovine                        QEPYRFSETAQQAMRKAFTLRYVLLPYLYTLFHRAHVRGET
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
Helix 689 – 704



Literature citations
Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.
Montalvo A.L.E.; Cariati R.; Deganuto M.; Guerci V.; Garcia R.; Ciana G.; Bembi B.; Pittis M.G.;
Mol. Genet. Metab. 81:203-208(2004)
Cited for: VARIANTS GSD2 PRO-355 AND CYS-702; CHARACTERIZATION OF VARIANTS GSD2 PRO-355 AND CYS-702;
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.