General Structure Information
| PDB ID | 3rch |
| HGNC Gene Label(s) | DDC |
| Structure Name | crystal structure of human aromatic l-amino acid decarboxylase (aadc) in the open conformation with llp and plp bound to chain-a and chain- b respectively |
| Resolution | 2.8Å |
| Reference | AUTH G.GIARDINA,R.MONTIOLI,S.GIANNI,B.CELLINI,A.PAIARDINI,AUTH 2 C.B.VOLTATTORNI,F.CUTRUZZOLATITL OPEN CONFORMATION OF HUMAN DOPA DECARBOXYLASE REVEALS THETITL 2 MECHANISM OF PLP ADDITION TO GROUP II DECARBOXYLASES.REF PROC.NATL.ACAD.SCI.USA V. 108 20514 2011REFN ISSN 0027-8424PMID 22143761DOI 10.1073/PNAS.1111456108 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 440 |
| Number Of SNVs | 118 |
| Number Of Permutations | 63063 |
| Optimal Distance Threshold | 25.0 |
| K Statistic | 0.311 |
| p-value | 0.179 |
ClinVar
| Number Of Residues | 440 |
| Number Of SNVs | 5 |
| Number Of Permutations | 1786 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.5 |
| p-value | 0.034 |
COSMIC
| Number Of Residues | 440 |
| Number Of SNVs | 4 |
| Number Of Permutations | 698 |
| Optimal Distance Threshold | 26.0 |
| K Statistic | 0.167 |
| p-value | 0.824 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 118 |
| Number Of ClinVar SNVs | 5 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.378 |
| p-value | 0.025 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 118 |
| Number Of COSMIC SNVs | 4 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | -0.122 |
| p-value | 0.929 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
