General Structure Information
| PDB ID | 1nf1 |
| HGNC Gene Label(s) | NF1 |
| Structure Name | the gap related domain of neurofibromin |
| Resolution | 2.5Å |
| Reference | AUTH K.SCHEFFZEK,M.R.AHMADIAN,L.WIESMULLER,W.KABSCH,AUTH 2 P.STEGE,F.SCHMITZ,A.WITTINGHOFERTITL STRUCTURAL ANALYSIS OF THE GAP-RELATED DOMAIN FROMTITL 2 NEUROFIBROMIN AND ITS IMPLICATIONS.REF EMBO J. V. 17 4313 1998REFN ISSN 0261-4189PMID 9687500DOI 10.1093/EMBOJ/17.15.4313 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 260 |
| Number Of SNVs | 40 |
| Number Of Permutations | 23757 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.063 |
| p-value | 0.774 |
ClinVar
| Number Of Residues | 260 |
| Number Of SNVs | 5 |
| Number Of Permutations | 1921 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.5 |
| p-value | 0.012 |
COSMIC
| Number Of Residues | 260 |
| Number Of SNVs | 7 |
| Number Of Permutations | 733 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | 0.429 |
| p-value | 0.309 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 40 |
| Number Of ClinVar SNVs | 5 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.185 |
| p-value | 0.012 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 40 |
| Number Of COSMIC SNVs | 7 |
| Optimal Distance Threshold | 19.0 |
| K Statistic | 0.279 |
| p-value | 0.156 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
