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UniProtKB/Swiss-Prot O95394: Variant p.Asp297Glu

Phosphoacetylglucosamine mutase
Gene: PGM3
Variant information

Variant position:  297
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Aspartate (D) to Glutamate (E) at position 297 (D297E, p.Asp297Glu).
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:  Similar physico-chemical property. Both residues are medium size and acidic.
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

Involvement in disease:  Immunodeficiency 23 (IMD23) [MIM:615816]: A primary immunodeficiency syndrome characterized by recurrent respiratory and skin infections beginning in early childhood, severe atopy, increased serum IgE, and developmental delay or cognitive impairment of varying severity. {ECO:0000269|PubMed:24589341, ECO:0000269|PubMed:24698316, ECO:0000269|PubMed:24931394}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In IMD23; decreased phosphoacetylglucosamine mutase activity; decreased protein abundance.
Any additional useful information about the variant.

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



Sequence information

Variant position:  297
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  542
The length of the canonical sequence.

Location on the sequence:   GDADRIVYYYHDADGHFHLI  D GDKIATLISSFLKELLVEIG
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                         GDADRIVYYYHDADGHFHLIDGDKIATLISSFLKELLV--EIG

Mouse                         GDADRIVYYYCDADGHFHLIDGDKIATLISSFLKELLL--E

Pig                           GDADRIIYYYCDVDGHFHLIDGDKIATLISSFLKELLL--E

Baker's yeast                 GDADRVVFYYVDSGSKFHLLDGDKISTLFAKFLSKQLELAH

Fission yeast                 GDADRLIFYYINQNRKFHLLDGDKISTALVGYLNILVK--K

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 – 542 Phosphoacetylglucosamine mutase
Metal binding 278 – 278 Magnesium
Metal binding 280 – 280 Magnesium
Mutagenesis 278 – 278 D -> AE. Loss of activity.
Mutagenesis 281 – 281 R -> AK. Loss of activity.


Literature citations

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.
Zhang Y.; Yu X.; Ichikawa M.; Lyons J.J.; Datta S.; Lamborn I.T.; Jing H.; Kim E.S.; Biancalana M.; Wolfe L.A.; DiMaggio T.; Matthews H.F.; Kranick S.M.; Stone K.D.; Holland S.M.; Reich D.S.; Hughes J.D.; Mehmet H.; McElwee J.; Freeman A.F.; Freeze H.H.; Su H.C.; Milner J.D.;
J. Allergy Clin. Immunol. 133:1400-1409(2014)
Cited for: FUNCTION; CATALYTIC ACTIVITY; PATHWAY; INVOLVEMENT IN IMD23; VARIANTS IMD23 GLU-297 AND GLN-501; CHARACTERIZATION OF VARIANTS IMD23 GLU-297 AND GLN-501;

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.