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:
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 GDADRIVYYYHDADGHFHLI DGDKIATLISSFLKELLV--EIG
Mouse GDADRIVYYYCDADGHFHLI DGDKIATLISSFLKELLL--E
Pig GDADRIIYYYCDVDGHFHLI DGDKIATLISSFLKELLL--E
Baker's yeast GDADRVVFYYVDSGSKFHLL DGDKISTLFAKFLSKQLELAH
Fission yeast GDADRLIFYYINQNRKFHLL DGDKISTALVGYLNILVK--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.
Type Positions Description
1 – 542 Phosphoacetylglucosamine mutase
278 – 278 Magnesium
280 – 280 Magnesium
278 – 278 D -> AE. Loss of activity.
281 – 281 R -> AK. Loss of activity.
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;
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.