General Structure Information
| PDB ID | 1xmi |
| HGNC Gene Label(s) | CFTR |
| Structure Name | crystal structure of human f508a nbd1 domain with atp |
| Resolution | 2.25Å |
| Reference | AUTH H.A.LEWIS,X.ZHAO,C.WANG,J.M.SAUDER,I.ROONEY,B.W.NOLAND,AUTH 2 D.LORIMER,M.C.KEARINS,K.CONNERS,B.CONDON,P.C.MALONEY,AUTH 3 W.B.GUGGINO,J.F.HUNT,S.EMTAGETITL IMPACT OF THE DELTA-F508 MUTATION IN FIRSTTITL 2 NUCLEOTIDE-BINDING DOMAIN OF HUMAN CYSTIC FIBROSISTITL 3 TRANSMEMBRANE CONDUCTANCE REGULATOR ON DOMAIN FOLDING ANDTITL 4 STRUCTUREREF J.BIOL.CHEM. V. 280 1346 2005REFN ISSN 0021-9258PMID 15528182DOI 10.1074/JBC.M410968200 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 267 |
| Number Of SNVs | 70 |
| Number Of Permutations | 21019 |
| Optimal Distance Threshold | 20.0 |
| K Statistic | 0.389 |
| p-value | 0.051 |
ClinVar
| Number Of Residues | 267 |
| Number Of SNVs | 21 |
| Number Of Permutations | 6459 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.257 |
| p-value | 0.0 |
COSMIC
| Number Of Residues | 267 |
| Number Of SNVs | 7 |
| Number Of Permutations | 2442 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.524 |
| p-value | 0.158 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 70 |
| Number Of ClinVar SNVs | 15 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.108 |
| p-value | 0.28 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 70 |
| Number Of COSMIC SNVs | 6 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | -0.14 |
| p-value | 0.77 |