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UniProtKB/Swiss-Prot Q04446: Variant p.Arg524Gln

1,4-alpha-glucan-branching enzyme
Gene: GBE1
Variant information

Variant position:  524
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Arginine (R) to Glutamine (Q) at position 524 (R524Q, p.Arg524Gln).
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:  Change from large size and basic (R) to medium size and polar (Q)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
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:  In GSD4 and APBN.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  524
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  702
The length of the canonical sequence.

Location on the sequence:   SVLTPFTPVIDRGIQLHKMI  R LITHGLGGEGYLNFMGNEFG
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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         SVLTPFTPVIDRGIQLHKMIRLITHGLGGEGYLNFMGNEFG

Mouse                         SVLAPFTPVIDRGIQLHKMIRLITHGLGGEGYLNFMGNEFG

Cat                           SVLTPFTPVIDRGIQLHKMIRLITHALGGEGYLNFMGNEFG

Horse                         SVLTPFTPVIDRGIQLHKMIRLITHALGGEGYLNFMGNEFG

Slime mold                    SVTTEETPIIDRGMSLHKMIRLITSSLGGDGYLNFMGNEFG

Baker's yeast                 TVLKEPSIVIDRGIALHKMIRLITHSLGGEAYLNFEGNEFG

Sequence annotation in neighborhood:  
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 2 – 702 1,4-alpha-glucan-branching enzyme
Helix 511 – 530


Literature citations

A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy.
Bruno C.; DiRocco M.; Lamba L.D.; Bado M.; Marino C.; Tsujino S.; Shanske S.; Stella G.; Minetti C.; van Diggelen O.P.; DiMauro S.;
Neuromuscul. Disord. 9:403-407(1999)
Cited for: VARIANT GSD4 GLN-524;

Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.
Ziemssen F.; Sindern E.; Schroder J.M.; Shin Y.S.; Zange J.; Kilimann M.W.; Malin J.P.; Vorgerd M.;
Ann. Neurol. 47:536-540(2000)
Cited for: VARIANTS APBN HIS-515 AND GLN-524;

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).
Bruno C.; van Diggelen O.P.; Cassandrini D.; Gimpelev M.; Giuffre B.; Donati M.A.; Introvini P.; Alegria A.; Assereto S.; Morandi L.; Mora M.; Tonoli E.; Mascelli S.; Traverso M.; Pasquini E.; Bado M.; Vilarinho L.; van Noort G.; Mosca F.; DiMauro S.; Zara F.; Minetti C.;
Neurology 63:1053-1058(2004)
Cited for: INVOLVEMENT IN NEUROMUSCULAR PERINATAL GSD4; VARIANTS GSD4 GLN-524; ARG-545 AND ARG-628;

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.