General Structure Information
| PDB ID | 2e2x |
| HGNC Gene Label(s) | NF1 |
| Structure Name | sec14 homology module of neurofibromin in complex with phosphatitylethanolamine |
| Resolution | 2.5Å |
| Reference | AUTH S.WELTI,S.FRATERMAN,I.DANGELO,M.WILM,K.SCHEFFZEKTITL THE SEC14 HOMOLOGY MODULE OF NEUROFIBROMIN BINDSTITL 2 CELLULAR GLYCEROPHOSPHOLIPIDS: MASS SPECTROMETRYTITL 3 AND STRUCTURE OF A LIPID COMPLEXREF J.MOL.BIOL. V. 366 551 2007REFN ISSN 0022-2836PMID 17187824DOI 10.1016/J.JMB.2006.11.055 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 250 |
| Number Of SNVs | 40 |
| Number Of Permutations | 17386 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.137 |
| p-value | 0.686 |
COSMIC
| Number Of Residues | 250 |
| Number Of SNVs | 6 |
| Number Of Permutations | 2862 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.067 |
| p-value | 0.888 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 40 |
| Number Of COSMIC SNVs | 5 |
| Optimal Distance Threshold | 27.0 |
| K Statistic | -0.197 |
| p-value | 0.897 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
