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UniProtKB/Swiss-Prot P35575: Variant p.Tyr209Cys

Glucose-6-phosphatase catalytic subunit 1
Gene: G6PC1
Variant information

Variant position:  209
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 Tyrosine (Y) to Cysteine (C) at position 209 (Y209C, p.Tyr209Cys).
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 aromatic (Y) to medium size and polar (C)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  In GSD1A; complete loss of glucose-6-phosphatase activity and reduced enzyme stability.
Any additional useful information about the variant.



Sequence information

Variant position:  209
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  357
The length of the canonical sequence.

Location on the sequence:   IAVAETFSHIHSIYNASLKK  Y FLITFFLFSFAIGFYLLLKG
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                         IAVAETFSHIHSIYNASLKKYFLITFFLFSFAIGFYLLLKG

Mouse                         IAVAETFSHIRGIYNASLRKYCLITIFLFGFALGFYLLLKG

Rat                           IAVAETFSHIRGIYNASLQRYCLITFFLFGFALGFYLLLKG

Bovine                        IAVAETFRHIQSIYNASLKKYFLITCFLFSFAIGFYLLLKW

Cat                           IAVAETFRHIQSIYNASLKKYFFITFFLLSFAIGFYLLLKG

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 1 – 357 Glucose-6-phosphatase catalytic subunit 1
Topological domain 203 – 209 Cytoplasmic
Alternative sequence 176 – 356 Missing. In isoform 2.
Mutagenesis 197 – 197 H -> T. Partial loss of glucose-6-phosphatase activity.


Literature citations

Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability.
Angaroni C.J.; de Kremer R.D.; Argarana C.E.; Paschini-Capra A.E.; Giner-Ayala A.N.; Pezza R.J.; Pan C.-J.; Chou J.Y.;
Mol. Genet. Metab. 83:276-279(2004)
Cited for: VARIANTS GSD1A ARG-16; PRO-54; CYS-83 AND CYS-209; CHARACTERIZATION OF VARIANTS GSD1A ARG-16 AND CYS-209; CATALYTIC ACTIVITY; 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.