General Structure Information
| PDB ID | 3m1n |
| HGNC Gene Label(s) | SHH |
| Structure Name | crystal structure of human sonic hedgehog n-terminal domain |
| Resolution | 1.85Å |
| Reference | AUTH R.B.PEPINSKY,P.RAYHORN,E.S.DAY,A.DERGAY,AUTH 2 K.P.WILLIAMS,A.GALDES,F.R.TAYLOR,AUTH 3 P.A.BORIACK-SJODIN,E.A.GARBERTITL MAPPING SONIC HEDGEHOG-RECEPTOR INTERACTIONS BYTITL 2 STERIC INTERFERENCE.REF J.BIOL.CHEM. V. 275 10995 2000REFN ISSN 0021-9258PMID 10753901DOI 10.1074/JBC.275.15.10995 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 164 |
| Number Of SNVs | 19 |
| Number Of Permutations | 3931 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.117 |
| p-value | 0.742 |
ClinVar
| Number Of Residues | 164 |
| Number Of SNVs | 7 |
| Number Of Permutations | 1242 |
| Optimal Distance Threshold | 19.0 |
| K Statistic | 0.238 |
| p-value | 0.695 |
COSMIC
| Number Of Residues | 164 |
| Number Of SNVs | 6 |
| Number Of Permutations | 2963 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.133 |
| p-value | 0.869 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC



Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 19 |
| Number Of ClinVar SNVs | 7 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.079 |
| p-value | 0.791 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 19 |
| Number Of COSMIC SNVs | 6 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.069 |
| p-value | 0.802 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis


COSMIC PathProx Analysis

