General Structure Information
| PDB ID | 3nhb |
| HGNC Gene Label(s) | ABCB6 |
| Structure Name | nucleotide binding domain of human abcb6 (adp bound structure) |
| Resolution | 2.15Å |
| Reference | AUTH M.HAFFKE,A.MENZEL,Y.CARIUS,D.JAHN,D.W.HEINZTITL STRUCTURES OF THE NUCLEOTIDE-BINDING DOMAIN OF THE HUMANTITL 2 ABCB6 TRANSPORTER AND ITS COMPLEXES WITH NUCLEOTIDES.REF ACTA CRYSTALLOGR.,SECT.D V. 66 979 2010REFN ISSN 0907-4449PMID 20823549DOI 10.1107/S0907444910028593 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 270 |
| Number Of SNVs | 82 |
| Number Of Permutations | 53657 |
| Optimal Distance Threshold | 20.0 |
| K Statistic | 0.38 |
| p-value | 0.054 |
ClinVar
| Number Of Residues | 270 |
| Number Of SNVs | 3 |
| Number Of Permutations | 290 |
| Optimal Distance Threshold | 23.0 |
| K Statistic | 0.0 |
| p-value | 0.376 |
COSMIC
| Number Of Residues | 270 |
| Number Of SNVs | 4 |
| Number Of Permutations | 270 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.167 |
| p-value | 0.943 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 82 |
| Number Of ClinVar SNVs | 3 |
| Optimal Distance Threshold | 21.0 |
| K Statistic | -0.413 |
| p-value | 0.021 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 82 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | -0.228 |
| p-value | 0.788 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
