General Structure Information
| PDB ID | 1gr3 |
| HGNC Gene Label(s) | COL10A1 |
| Structure Name | structure of the human collagen x nc1 trimer |
| Resolution | 2.0Å |
| Reference | AUTH O.BOGIN,M.KVANSAKUL,E.ROM,J.SINGER,A.YAYON,AUTH 2 E.HOHENESTERTITL INSIGHT INTO SCHMID METAPHYSEAL CHONDRODYSPLASIATITL 2 FROM THE CRYSTAL STRUCTURE OF THE COLLAGEN X NC1TITL 3 DOMAIN TRIMER.REF STRUCTURE V. 10 165 2002REFN ISSN 0969-2126PMID 11839302DOI 10.1016/S0969-2126(02)00697-4 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 132 |
| Number Of SNVs | 35 |
| Number Of Permutations | 12925 |
| Optimal Distance Threshold | 5.0 |
| K Statistic | 0.018 |
| p-value | 0.665 |
ClinVar
| Number Of Residues | 132 |
| Number Of SNVs | 8 |
| Number Of Permutations | 3489 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.714 |
| p-value | 0.019 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 35 |
| Number Of ClinVar SNVs | 7 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.39 |
| p-value | 0.014 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
