2FUE.A | PMM1

General Structure Information

PDB ID 2fue
HGNC Gene Label(s) PMM1
Structure Name human alpha-phosphomannomutase 1 with d-mannose 1-phosphate and mg2+ cofactor bound
Resolution 1.75Å
Reference AUTH N.R.SILVAGGI,C.ZHANG,Z.LU,J.DAI,D.DUNAWAY-MARIANO,K.N.ALLENTITL THE X-RAY CRYSTAL STRUCTURES OF HUMANTITL 2 ALPHA-PHOSPHOMANNOMUTASE 1 REVEAL THE STRUCTURAL BASIS OFTITL 3 CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A.REF J.BIOL.CHEM. V. 281 14918 2006REFN ISSN 0021-9258PMID 16540464DOI 10.1074/JBC.M601505200

Variant Set Distributions

ExAC Variants

Number Of Residues 243
Number Of SNVs 70
Number Of Permutations 11366
Optimal Distance Threshold 15.0
K Statistic 0.169
p-value 0.152

Mapped Variants

[+] ExAC Missense Variants