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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P10253: Variant p.Ser523Tyr

Lysosomal alpha-glucosidase
Gene: GAA
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Variant information Variant position: help 523 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 Serine (S) to Tyrosine (Y) at position 523 (S523Y, p.Ser523Tyr). 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 small size and polar (S) to large size and aromatic (Y) 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.


Sequence information Variant position: help 523 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 VAEFHDQVPFDGMWIDMNEP S NFIRGSEDGCPNNELENPPY 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                         VAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPY

Mouse                         VSEFHAQVPFDGMWLDMNEPSNFVRGSQQGCPNNELENPPY

Rat                           VSEFHAQVPFDGMWIDMNEPSNFIRGSQQGCPDNELENPPY

Bovine                        VTEFHAQVPFDGMWIDMNEPSNFVRGSVDGCPDNSLENPPY
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
Active site 518 – 518 Nucleophile
Active site 521 – 521
Mutagenesis 516 – 516 W -> R. Loss of activity.
Mutagenesis 518 – 518 D -> GNE. Loss of activity.



Literature citations
Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.
Kroos M.; Hoogeveen-Westerveld M.; Michelakakis H.; Pomponio R.; Van der Ploeg A.; Halley D.; Reuser A.; Augoustides-Savvopoulou P.; Ausems M.; Llona J.B.; Bautista Lorite J.; van der Beek N.; Bonafe L.; Cuk M.; D'Hooghe M.; Engelen B.; Farouk A.; Fumic K.; Garcia-Delgado E.; Herzog A.; Hurst J.; Jones S.; Kariminejad M.H.; Kucukcongar A.; Lissens W.; Lund A.; Majoor-Krakauer D.; Kumamoto S.; Maravi E.; Marie S.; Mengel E.; Mavridou I.; Munteis Olivas E.; Najmabadi H.; Okumiya T.; Peric S.; Paschke E.; Plecko B.; Robberecht W.; Serdaroglu P.; Shboul M.; Tansek M.Z.; Tarnutzer A.; Stojanovic V.R.; Tylki-Szymanska A.; Venancio M.; Verhoeven K.;
Hum. Mutat. 33:1161-1165(2012)
Cited for: VARIANTS HIS-74; HIS-89; LEU-220; MET-222; ASP-290; GLY-310; VAL-391; CYS-458; ASP-611; LEU-629; 700-THR-LEU-701 DEL AND ILE-718; VARIANTS GSD2 ARG-103; GLY-108; PHE-127; GLN-224; ARG-234; LYS-234; ILE-316; GLU-335; LEU-361; LEU-397; VAL-419; HIS-457; TYR-523; SER-558; CYS-575; ARG-576; HIS-594; LEU-601; ALA-602; PRO-627; ASP-648; LEU-702; LYS-743; PRO-819 AND PHE-916;
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.