General Structure Information
| PDB ID | 1i3n |
| HGNC Gene Label(s) | GALE |
| Structure Name | molecular basis for severe epimerase-deficiency galactosemia: x-ray structure of the human v94m- substituted udp-galactose 4-epimerase |
| Resolution | 1.5Å |
| Reference | AUTH J.B.THODEN,T.M.WOHLERS,J.L.FRIDOVICH-KEIL,AUTH 2 H.M.HOLDENTITL MOLECULAR BASIS FOR SEVERE EPIMERASE DEFICIENCYTITL 2 GALACTOSEMIA. X-RAY STRUCTURE OF THE HUMANTITL 3 V94M-SUBSTITUTED UDP-GALACTOSE 4-EPIMERASE.REF J.BIOL.CHEM. V. 276 20617 2001REFN ISSN 0021-9258PMID 11279193DOI 10.1074/JBC.M101304200 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 345 |
| Number Of SNVs | 104 |
| Number Of Permutations | 11055 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.028 |
| p-value | 0.423 |
ClinVar
| Number Of Residues | 345 |
| Number Of SNVs | 10 |
| Number Of Permutations | 1173 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.311 |
| p-value | 0.257 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 104 |
| Number Of ClinVar SNVs | 10 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.129 |
| p-value | 0.227 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
