General Structure Information
| PDB ID | 2acu |
| HGNC Gene Label(s) | AKR1B1 |
| Structure Name | tyrosine-48 is the proton donor and histidine-110 directs substrate stereochemical selectivity in the reduction reaction of human aldose reductase: enzyme kinetics and the crystal structure of the y48h mutant enzyme |
| Resolution | 1.76Å |
| Reference | AUTH K.M.BOHREN,C.E.GRIMSHAW,C.J.LAI,D.H.HARRISON,AUTH 2 D.RINGE,G.A.PETSKO,K.H.GABBAYTITL TYROSINE-48 IS THE PROTON DONOR AND HISTIDINE-110TITL 2 DIRECTS SUBSTRATE STEREOCHEMICAL SELECTIVITY INTITL 3 THE REDUCTION REACTION OF HUMAN ALDOSE REDUCTASE:TITL 4 ENZYME KINETICS AND CRYSTAL STRUCTURE OF THE Y48HTITL 5 MUTANT ENZYME.REF BIOCHEMISTRY V. 33 2021 1994REFN ISSN 0006-2960PMID 8117659DOI 10.1021/BI00174A007 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 315 |
| Number Of SNVs | 82 |
| Number Of Permutations | 9821 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | 0.202 |
| p-value | 0.099 |
COSMIC
| Number Of Residues | 315 |
| Number Of SNVs | 5 |
| Number Of Permutations | 302 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.5 |
| p-value | 0.042 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 82 |
| Number Of COSMIC SNVs | 5 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.372 |
| p-value | 0.021 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
