2PQT.A | NAT1

General Structure Information

PDB ID 2pqt
HGNC Gene Label(s) NAT1
Structure Name human n-acetyltransferase 1
Resolution 1.78Å
Reference AUTH H.WU,L.DOMBROVSKY,W.TEMPEL,F.MARTIN,P.LOPPNAU,AUTH 2 G.H.GOODFELLOW,D.M.GRANT,A.N.PLOTNIKOVTITL STRUCTURAL BASIS OF SUBSTRATE-BINDING SPECIFICITYTITL 2 OF HUMAN ARYLAMINE N-ACETYLTRANSFERASES.REF J.BIOL.CHEM. V. 282 30189 2007REFN ISSN 0021-9258PMID 17656365DOI 10.1074/JBC.M704138200

Variant Set Distributions

ExAC Variants

Number Of Residues 288
Number Of SNVs 85
Number Of Permutations 20345
Optimal Distance Threshold 8.0
K Statistic 0.041
p-value 0.579
COSMIC

Number Of Residues 288
Number Of SNVs 4
Number Of Permutations 626
Optimal Distance Threshold 7.0
K Statistic 0.167
p-value 0.44

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs 85
Number Of COSMIC SNVs 4
Optimal Distance Threshold 7.0
K Statistic 0.138
p-value 0.667

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants