General Structure Information
| PDB ID | 4f14 |
| HGNC Gene Label(s) | NEBL |
| Structure Name | structure of the sh3 domain of human nebulette in complex with a peptide of xirp2 |
| Resolution | 1.2Å |
| Reference | AUTH S.EULITZ,F.SAUER,M.C.PELISSIER,P.BOISGUERIN,S.MOLT,J.SCHULD,AUTH 2 Z.ORFANOS,R.A.KLEY,R.VOLKMER,M.WILMANNS,G.KIRFEL,AUTH 3 P.F.VAN DER VEN,D.O.FURSTTITL IDENTIFICATION OF XIN-REPEAT PROTEINS AS NOVEL LIGANDS OFTITL 2 THE SH3 DOMAINS OF NEBULIN AND NEBULETTE AND ANALYSIS OFTITL 3 THEIR INTERACTION DURING MYOFIBRIL FORMATION AND REMODELING.REF MOL BIOL CELL V. 24 3215 2013REFNPMID 23985323DOI 10.1091/MBC.E13-04-0202 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 56 |
| Number Of SNVs | 9 |
| Number Of Permutations | 574 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.056 |
| p-value | 0.535 |
COSMIC
| Number Of Residues | 56 |
| Number Of SNVs | 4 |
| Number Of Permutations | 17 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.167 |
| p-value | 1.0 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 9 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | -0.194 |
| p-value | 0.983 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
