General Structure Information
| PDB ID | 1li1 |
| HGNC Gene Label(s) | COL4A1 |
| Structure Name | the 1.9-a crystal structure of the noncollagenous (nc1) domain of human placenta collagen iv shows stabilization via a novel type of covalent met-lys cross-link |
| Resolution | 1.9Å |
| Reference | AUTH M.E.THAN,S.HENRICH,R.HUBER,A.RIES,K.MANN,K.KUHN,AUTH 2 R.TIMPL,G.P.BOURENKOV,H.D.BARTUNIK,W.BODETITL THE 1.9-A CRYSTAL STRUCTURE OF THE NONCOLLAGENOUSTITL 2 (NC1) DOMAIN OF HUMAN PLACENTA COLLAGEN IV SHOWSTITL 3 STABILIZATION VIA A NOVEL TYPE OF COVALENT MET-LYSTITL 4 CROSS-LINK.REF PROC.NATL.ACAD.SCI.USA V. 99 6607 2002REFN ISSN 0027-8424PMID 12011424DOI 10.1073/PNAS.062183499 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 227 |
| Number Of SNVs | 48 |
| Number Of Permutations | 25731 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.254 |
| p-value | 0.116 |
COSMIC
| Number Of Residues | 227 |
| Number Of SNVs | 3 |
| Number Of Permutations | 46 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.333 |
| p-value | 0.571 |
Ripley’s K Analysis Plots
ExACCOSMIC


Variant Set Comparisons
Cosmic vs. ExAC

Pathogenic Proximity Analysis
COSMIC PathProx Analysis

