Variant position: 451 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 ALKGLTVQQWDALYTDLPNR QLKVQVADRRVISTTDAERQA
Mouse ALKGLTVQQWDAIYVDLPNR QLKVKVADRRVISTTDAERQA
Pig ALKGLTIQQWDALYTDLPNR QLKVKVADRQVISTTDAERQV
Baker's yeast AILKMSPMDWDEEYTDLPNK LVKCIVPDRSIFQTTDQERKL
Fission yeast NALHWDASAWSNTYKDLPNK LAKVKVSDRTIYKSTDAERRL
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
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
Stray-Pedersen A.; Backe P.H.; Sorte H.S.; Moerkrid L.; Chokshi N.Y.; Erichsen H.C.; Gambin T.; Elgstoeen K.B.; Bjoeraas M.; Wlodarski M.W.; Krueger M.; Jhangiani S.N.; Muzny D.M.; Patel A.; Raymond K.M.; Sasa G.S.; Krance R.A.; Martinez C.A.; Abraham S.M.; Speckmann C.; Ehl S.; Hall P.; Forbes L.R.; Merckoll E.; Westvik J.; Nishimura G.; Rustad C.F.; Abrahamsen T.G.; Roennestad A.; Osnes L.T.; Egeland T.; Roedningen O.K.; Beck C.R.; Boerwinkle E.A.; Gibbs R.A.; Lupski J.R.; Orange J.S.; Lausch E.; Hanson I.C.;
Am. J. Hum. Genet. 95:96-107(2014)
Cited for: FUNCTION; CATALYTIC ACTIVITY; PATHWAY; INVOLVEMENT IN IMD23; VARIANTS IMD23 HIS-239; SER-246 AND ARG-451; CHARACTERIZATION OF VARIANTS IMD23 HIS-239; SER-246 AND ARG-451;
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.