General Structure Information
| PDB ID | 4irq |
| HGNC Gene Label(s) | B4GALT7 |
| Structure Name | crystal structure of catalytic domain of human beta1, 4galactosyltransferase 7 in closed conformation in complex with manganese and udp |
| Resolution | 2.3Å |
| Reference | AUTH Y.TSUTSUI,B.RAMAKRISHNAN,P.K.QASBATITL CRYSTAL STRUCTURES OF BETA-1,4-GALACTOSYLTRANSFERASE 7TITL 2 ENZYME REVEAL CONFORMATIONAL CHANGES AND SUBSTRATE BINDING.REF J.BIOL.CHEM. V. 288 31963 2013REFN ISSN 0021-9258PMID 24052259DOI 10.1074/JBC.M113.509984 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 240 |
| Number Of SNVs | 83 |
| Number Of Permutations | 31855 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.132 |
| p-value | 0.162 |
ClinVar
| Number Of Residues | 240 |
| Number Of SNVs | 3 |
| Number Of Permutations | 189 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.0 |
| p-value | 0.906 |
COSMIC
| Number Of Residues | 240 |
| Number Of SNVs | 3 |
| Number Of Permutations | 347 |
| Optimal Distance Threshold | 37.0 |
| K Statistic | 0.667 |
| p-value | 0.307 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 83 |
| Number Of ClinVar SNVs | 3 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.17 |
| p-value | 0.766 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 83 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 28.0 |
| K Statistic | -0.373 |
| p-value | 0.326 |