Variant position: 68 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 562 The length of the canonical sequence.
Location on the sequence:
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 EPAQRQEATLVVGGDGRFYM KEAIQLIARIAAANGIGRLVI
Mouse EPALRQEATLVVGGDGRFYM TEAIQLIVRIAAANGIGRLVI
Rat EPALRQEATLVVGGDGRFYM TEAIQLIVRIAAANGIGRLVI
Bovine EPAQRQEATLVVGGDGRFYM KEAIQLIVRIAAANGIGRLVI
Rabbit EPAQRQEATLVVGGDGRFYM KEAIQLIVRIAAANGIGRLVI
Slime mold PEDKLKGSTIVVGGDGRYYN NDAIQLIFQIAAANGVGKILV
Baker's yeast PNGS-EGTTLVVGGDGRFYN DVIMNKIAAVGAANGVRKLVI
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
1 – 562 Phosphoglucomutase-1
1 – 197 Missing. In isoform 3.
1 – 77 MVKIVTVKTQAYQDQKPGTSGLRKRVKVFQSSANYAENFIQSIISTVEPAQRQEATLVVGGDGRFYMKEAIQLIARI -> MSDFEEWISGTYRKMEEGPLPLLTFATAPYHDQKPGTSGLRKKTYYFEEKPCYLENFIQSIFFSIDLKDRQGSSLVVGGDGRYFNKSAIETIVQM. In isoform 2.
67 – 80
Intragenic recombination at the human phosphoglucomutase 1 locus: predictions fulfilled.
Takahashi N.; Neels J.V.;
Proc. Natl. Acad. Sci. U.S.A. 90:10725-10729(1993)
Cited for: VARIANTS MET-68; CYS-221 AND HIS-420;
Compromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiency.
Lee Y.; Stiers K.M.; Kain B.N.; Beamer L.J.;
J. Biol. Chem. 289:32010-32019(2014)
Cited for: CHARACTERIZATION OF VARIANTS CDG1T ALA-19; TYR-38; ARG-41; HIS-62; ALA-115; ARG-121; GLY-263; TYR-263; ARG-291; ARG-330; LYS-377; LYS-388 AND PRO-516; VARIANTS MET-68; CYS-221 AND HIS-420; CATALYTIC ACTIVITY; BIOPHYSICOCHEMICAL PROPERTIES; ACTIVE SITE; PHOSPHORYLATION AT SER-117; ACTIVITY REGULATION;
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.