Sequence information
Variant position: 502 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:
NDLVKKYKLSRAFVRPSGTE
D VVRVYAEADSQESADHLAHE
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 NDLVKKYKLSRAFVRPSGTED VVRVYAEADSQESADHLAHE
Mouse NDLVKKYTLARAFVRPSGTED IVRVYAEANSQESADRLAYE
Pig NDLVKKYKLSRAFVRPSGTED VVRVYAEADSQENADSLAYE
Baker's yeast DLVVAKYPMGRSFVRASGTED AVRVYAECKDSSKLGQFCDE
Fission yeast DALVAKYEKGRSFVRASGTED VVRVYAEASTKQAADELCEK
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 – 542
Phosphoacetylglucosamine mutase
Binding site
505 – 505
Substrate
Literature citations
Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels.
Sassi A.; Lazaroski S.; Wu G.; Haslam S.M.; Fliegauf M.; Mellouli F.; Patiroglu T.; Unal E.; Ozdemir M.A.; Jouhadi Z.; Khadir K.; Ben-Khemis L.; Ben-Ali M.; Ben-Mustapha I.; Borchani L.; Pfeifer D.; Jakob T.; Khemiri M.; Asplund A.C.; Gustafsson M.O.; Lundin K.E.; Falk-Soerqvist E.; Moens L.N.; Gungor H.E.; Engelhardt K.R.; Dziadzio M.; Stauss H.; Fleckenstein B.; Meier R.; Prayitno K.; Maul-Pavicic A.; Schaffer S.; Rakhmanov M.; Henneke P.; Kraus H.; Eibel H.; Koelsch U.; Nadifi S.; Nilsson M.; Bejaoui M.; Schaeffer A.A.; Smith C.I.; Dell A.; Barbouche M.R.; Grimbacher B.;
J. Allergy Clin. Immunol. 133:1410-1419(2014)
Cited for: FUNCTION; CATALYTIC ACTIVITY; PATHWAY; INVOLVEMENT IN IMD23; VARIANTS IMD23 SER-83; GLU-340 DEL AND TYR-502; CHARACTERIZATION OF VARIANTS IMD23 SER-83; GLU-340 DEL AND TYR-502;
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.