General Structure Information
| PDB ID | 1kqo |
| HGNC Gene Label(s) | NMNAT1 |
| Structure Name | crystal structure of nmn/namn adenylyltransferase complexed with deamido-nad |
| Resolution | 2.5Å |
| Reference | AUTH T.ZHOU,O.KURNASOV,D.R.TOMCHICK,D.D.BINNS,N.V.GRISHIN,AUTH 2 V.E.MARQUEZ,A.L.OSTERMAN,H.ZHANGTITL STRUCTURE OF HHUMAN OF NICOTINAMIDE/NICOTINIC ACIDTITL 2 MONONUCLEOTIDE ADENYLYLTRANSFERASE. BASIS FOR THE DUALTITL 3 SUBSTRATE SPECIFICITY AND ACTIVATION OF THE ONCOLYTIC AGENTTITL 4 TIAZOFURIN.REF J.BIOL.CHEM. V. 277 13148 2002REFN ISSN 0021-9258PMID 11788603DOI 10.1074/JBC.M111469200 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 233 |
| Number Of SNVs | 69 |
| Number Of Permutations | 26102 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.151 |
| p-value | 0.095 |
ClinVar
| Number Of Residues | 233 |
| Number Of SNVs | 8 |
| Number Of Permutations | 2941 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.143 |
| p-value | 0.726 |
COSMIC
| Number Of Residues | 233 |
| Number Of SNVs | 3 |
| Number Of Permutations | 18 |
| Optimal Distance Threshold | 20.0 |
| K Statistic | 0.333 |
| p-value | 1.0 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 69 |
| Number Of ClinVar SNVs | 8 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.036 |
| p-value | 0.929 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 69 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 21.0 |
| K Statistic | 0.614 |
| p-value | 0.469 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
