General Structure Information
| PDB ID | 1xdm |
| HGNC Gene Label(s) | ALDOB |
| Structure Name | structure of human aldolase b associated with hereditary fructose intolerance (a149p), at 291k |
| Resolution | 3.0Å |
| Reference | AUTH A.D.MALAY,K.N.ALLEN,D.R.TOLANTITL STRUCTURE OF THE THERMOLABILE MUTANT ALDOLASE B,TITL 2 A149P: MOLECULAR BASIS OF HEREDITARY FRUCTOSETITL 3 INTOLERANCE.REF J.MOL.BIOL. V. 347 135 2005REFN ISSN 0022-2836PMID 15733923DOI 10.1016/J.JMB.2005.01.008 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 296 |
| Number Of SNVs | 85 |
| Number Of Permutations | 20763 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.019 |
| p-value | 0.64 |
ClinVar
| Number Of Residues | 296 |
| Number Of SNVs | 6 |
| Number Of Permutations | 1419 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.2 |
| p-value | 0.149 |
COSMIC
| Number Of Residues | 296 |
| Number Of SNVs | 6 |
| Number Of Permutations | 337 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.267 |
| p-value | 0.047 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 85 |
| Number Of ClinVar SNVs | 6 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.15 |
| p-value | 0.134 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 85 |
| Number Of COSMIC SNVs | 4 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.531 |
| p-value | 0.028 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
