General Structure Information
| PDB ID | 1hk0 |
| HGNC Gene Label(s) | CRYGD |
| Structure Name | human gamma-d crystallin structure at 1.25 a resolution |
| Resolution | 1.25Å |
| Reference | AUTH A.K.BASAK,O.BATEMAN,C.SLINGSBY,A.PANDE,N.ASHERIE,AUTH 2 O.OGUN,G.BENEDEK,J.PANDETITL HIGH-RESOLUTION X-RAY CRYSTAL STRUCTURES OF HUMANTITL 2 GAMMAD CRYSTALLIN (1.25A) AND THE R58H MUTANTTITL 3 (1.15A) ASSOCIATED WITH ACULEIFORM CATARACTREF J.MOL.BIOL. V. 328 1137 2003REFN ISSN 0022-2836PMID 12729747DOI 10.1016/S0022-2836(03)00375-9 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 173 |
| Number Of SNVs | 47 |
| Number Of Permutations | 5042 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.046 |
| p-value | 0.294 |
ClinVar
| Number Of Residues | 173 |
| Number Of SNVs | 5 |
| Number Of Permutations | 407 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.5 |
| p-value | 0.634 |
COSMIC
| Number Of Residues | 173 |
| Number Of SNVs | 4 |
| Number Of Permutations | 524 |
| Optimal Distance Threshold | 20.0 |
| K Statistic | 0.167 |
| p-value | 0.976 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 47 |
| Number Of ClinVar SNVs | 5 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.243 |
| p-value | 0.595 |
Cosmic vs. ExAC
