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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P10253: Variant p.Leu312Arg

Lysosomal alpha-glucosidase
Gene: GAA
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Variant information Variant position: help 312 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 Leucine (L) to Arginine (R) at position 312 (L312R, p.Leu312Arg). 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 hydrophobic (L) 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; severe; loss of activity. Any additional useful information about the variant.


Sequence information Variant position: help 312 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 YGSHPFYLALEDGGSAHGVF L LNSNAMDVVLQPSPALSWRS 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                         YGSHPFYLALEDGGSAHGVFLLNSNAMDVVLQPSPALSWRS

Mouse                         YGSHPFYLALEDGGLAHGVFLLNSNAMDVILQPSPALTWRS

Rat                           YGSHPFYLALEDGGLAHGVFLLNSNAMDVVLQPSPALTWRS

Bovine                        YGSHPFYLVLEDGGLAHGVFLLNSNAMDVVLQPSPALSWRS
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
Beta strand 307 – 312



Literature citations
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;
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.