General Structure Information
| PDB ID | 4gll |
| HGNC Gene Label(s) | UXS1 |
| Structure Name | crystal structure of human udp-xylose synthase. |
| Resolution | 2.5Å |
| Reference | AUTH S.J.POLIZZI,R.M.WALSH,W.B.PEEPLES,J.M.LIM,L.WELLS,Z.A.WOODTITL HUMAN UDP-ALPHA-D-XYLOSE SYNTHASE AND ESCHERICHIA COLI ARNATITL 2 CONSERVE A CONFORMATIONAL SHUNT THAT CONTROLS WHETHER XYLOSETITL 3 OR 4-KETO-XYLOSE IS PRODUCED.REF BIOCHEMISTRY V. 51 8844 2012REFN ISSN 0006-2960PMID 23072385DOI 10.1021/BI301135B |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 307 |
| Number Of SNVs | 55 |
| Number Of Permutations | 26372 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.034 |
| p-value | 0.308 |
COSMIC
| Number Of Residues | 307 |
| Number Of SNVs | 4 |
| Number Of Permutations | 644 |
| Optimal Distance Threshold | 22.0 |
| K Statistic | 0.167 |
| p-value | 0.647 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 55 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 22.0 |
| K Statistic | -0.368 |
| p-value | 0.357 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
