General Structure Information
| PDB ID | 2k2o |
| HGNC Gene Label(s) | MYOF |
| Structure Name | solution structure of the inner dysf domain of human myoferlin |
| Resolution | -1.0Å |
| Reference | AUTH P.PATEL,R.HARRIS,S.M.GEDDES,E.M.STREHLE,J.D.WATSON,AUTH 2 R.BASHIR,K.BUSHBY,P.C.DRISCOLL,N.H.KEEPTITL SOLUTION STRUCTURE OF THE INNER DYSF DOMAIN OFTITL 2 MYOFERLIN AND IMPLICATIONS FOR LIMB GIRDLETITL 3 MUSCULAR DYSTROPHY TYPE 2B.REF J.MOL.BIOL. V. 379 981 2008REFN ISSN 0022-2836PMID 18495154DOI 10.1016/J.JMB.2008.04.046 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 118 |
| Number Of SNVs | 42 |
| Number Of Permutations | 6864 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.065 |
| p-value | 0.857 |
COSMIC
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 42 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 23.0 |
| K Statistic | -0.571 |
| p-value | 0.08 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
