General Structure Information
| PDB ID | 2m3t |
| HGNC Gene Label(s) | CRYGS |
| Structure Name | solution-state nmr structure of wild-type human gamma(s)-crystallin |
| Resolution | -1.0Å |
| Reference | AUTH C.N.KINGSLEY,W.D.BRUBAKER,S.MARKOVIC,A.DIEHL,A.J.BRINDLEY,AUTH 2 H.OSCHKINAT,R.W.MARTINTITL PREFERENTIAL AND SPECIFIC BINDING OF HUMAN ALPHATITL 2 B-CRYSTALLIN TO A CATARACT-RELATED VARIANT OF GAMMATITL 3 S-CRYSTALLIN.REF STRUCTURE V. 21 2221 2013REFN ISSN 0969-2126PMID 24183572DOI 10.1016/J.STR.2013.09.017 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 177 |
| Number Of SNVs | 50 |
| Number Of Permutations | 19875 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | 0.264 |
| p-value | 0.022 |
COSMIC
| Number Of Residues | 177 |
| Number Of SNVs | 3 |
| Number Of Permutations | 7 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.333 |
| p-value | 1.0 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 50 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | -0.173 |
| p-value | 1.0 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
