Sequence information
Variant position: 211 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:
VAETFSHIHSIYNASLKKYF
L ITFFLFSFAIGFYLLLKGLG
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 VAETFSHIHSIYNASLKKYFL ITFFLFSFAIGFYLLLKGLG
Mouse VAETFSHIRGIYNASLRKYCL ITIFLFGFALGFYLLLKGLG
Rat VAETFSHIRGIYNASLQRYCL ITFFLFGFALGFYLLLKGLG
Bovine VAETFRHIQSIYNASLKKYFL ITCFLFSFAIGFYLLLKWLG
Cat VAETFRHIQSIYNASLKKYFF ITFFLLSFAIGFYLLLKGLG
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.
Type Positions Description
Chain
1 – 357
Glucose-6-phosphatase catalytic subunit 1
Transmembrane
210 – 230
Helical
Alternative sequence
176 – 356
Missing. In isoform 2.
Mutagenesis
197 – 197
H -> T. Partial loss of glucose-6-phosphatase activity.
Literature citations
Mutation analysis in 24 French patients with glycogen storage disease type 1a.
Chevalier-Porst F.; Bozon D.; Bonardot A.-M.; Bruni N.; Mithieux G.; Mathieu M.; Maire I.;
J. Med. Genet. 33:358-360(1996)
Cited for: VARIANTS GSD1A VAL-38; ARG-77; LYS-110; THR-124; GLU-184; ARG-188 AND PRO-211;
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.