General Structure Information
| PDB ID | 2pvy |
| HGNC Gene Label(s) | FGFR2 |
| Structure Name | crystal strucure of fgf receptor 2 (fgfr2) kinase domain harboring the pathogenic k659n mutation responsible for an unclassified craniosynostosis syndrome. |
| Resolution | 2.2Å |
| Reference | AUTH H.CHEN,J.MA,W.LI,A.V.ELISEENKOVA,C.XU,T.A.NEUBERT,AUTH 2 W.T.MILLER,M.MOHAMMADITITL A MOLECULAR BRAKE IN THE KINASE HINGE REGION REGULATES THETITL 2 ACTIVITY OF RECEPTOR TYROSINE KINASES.REF MOL.CELL V. 27 717 2007REFN ISSN 1097-2765PMID 17803937DOI 10.1016/J.MOLCEL.2007.06.028 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 283 |
| Number Of SNVs | 36 |
| Number Of Permutations | 16530 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.008 |
| p-value | 0.485 |
ClinVar
| Number Of Residues | 283 |
| Number Of SNVs | 4 |
| Number Of Permutations | 756 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.667 |
| p-value | 0.454 |
COSMIC
| Number Of Residues | 283 |
| Number Of SNVs | 13 |
| Number Of Permutations | 10079 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.115 |
| p-value | 0.668 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 36 |
| Number Of ClinVar SNVs | 4 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.378 |
| p-value | 0.746 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 36 |
| Number Of COSMIC SNVs | 5 |
| Optimal Distance Threshold | 28.0 |
| K Statistic | -0.383 |
| p-value | 0.129 |