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UniProtKB/Swiss-Prot Q04446: Variant p.Arg515Cys

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

Variant position:  515
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 Cysteine (C) at position 515 (R515C, p.Arg515Cys).
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 (C)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  In GSD4; loss of activity.
Any additional useful information about the variant.

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



Sequence information

Variant position:  515
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:   MDAEMYTNMSVLTPFTPVID  R GIQLHKMIRLITHGLGGEGY
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                         MDAEMYTNMSVLTPFTPVIDRGIQLHKMIRLITHGLGGEGY

Mouse                         MDAEMYTNMSVLAPFTPVIDRGIQLHKMIRLITHGLGGEGY

Cat                           MDAEMYTNMSVLTPFTPVIDRGIQLHKMIRLITHALGGEGY

Horse                         MDAEMYTNMSVLTPFTPVIDRGIQLHKMIRLITHALGGEGY

Slime mold                    MDKEMYTNMSVTTEETPIIDRGMSLHKMIRLITSSLGGDGY

Baker's yeast                 MDAAMYTDMTVLKEPSIVIDRGIALHKMIRLITHSLGGEAY

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

Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.
Bao Y.; Kishnani P.; Wu J.Y.; Chen Y.T.;
J. Clin. Invest. 97:941-948(1996)
Cited for: VARIANTS GSD4 PRO-224; LEU-257; SER-329 AND CYS-515; CHARACTERIZATION OF VARIANTS GSD4 PRO-224; LEU-257; SER-329 AND CYS-515; FUNCTION; PATHWAY; CATALYTIC ACTIVITY;

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.