General Structure Information
| PDB ID | 4k33 |
| HGNC Gene Label(s) | FGFR3 |
| Structure Name | crystal strucure of fgf receptor 3 (fgfr3) kinase domain harboring the k650e mutation, a gain-of-function mutation responsible for thanatophoric dysplasia type ii and spermatocytic seminoma |
| Resolution | 2.34Å |
| Reference | AUTH Z.HUANG,H.CHEN,S.BLAIS,T.A.NEUBERT,X.LI,M.MOHAMMADITITL STRUCTURAL MIMICRY OF A-LOOP TYROSINE PHOSPHORYLATION BY ATITL 2 PATHOGENIC FGF RECEPTOR 3 MUTATION.REF STRUCTURE V. 21 1889 2013REFN ISSN 0969-2126PMID 23972473DOI 10.1016/J.STR.2013.07.017 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 293 |
| Number Of SNVs | 64 |
| Number Of Permutations | 12031 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.107 |
| p-value | 0.011 |
ClinVar
| Number Of Residues | 293 |
| Number Of SNVs | 6 |
| Number Of Permutations | 785 |
| Optimal Distance Threshold | 20.0 |
| K Statistic | 0.533 |
| p-value | 0.562 |
COSMIC
| Number Of Residues | 293 |
| Number Of SNVs | 7 |
| Number Of Permutations | 2680 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.095 |
| p-value | 0.567 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 64 |
| Number Of ClinVar SNVs | 6 |
| Optimal Distance Threshold | 19.0 |
| K Statistic | 0.167 |
| p-value | 0.405 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 64 |
| Number Of COSMIC SNVs | 6 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.046 |
| p-value | 0.379 |