1ZBQ.C | HSD17B4

General Structure Information

PDB ID 1zbq
HGNC Gene Label(s) HSD17B4
Structure Name crystal structure of human 17-beta-hydroxysteroid dehydrogenase type 4 in complex with nad
Resolution 2.71Å
Reference AUTH P.LUKACIK,N.SHAFQAT,K.KAVANAGH,J.BRAY,F.VON DELFT,A.EDWARDS,AUTH 2 C.ARROWSMITH,M.SUNDSTROM,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN 17-BETA-HYDROXYSTEROIDTITL 2 DEHYDROGENASE TYPE 4 IN COMPLEX WITH NADREF TO BE PUBLISHEDREFN

Variant Set Distributions

ExAC Variants

Number Of Residues 302
Number Of SNVs 77
Number Of Permutations 56773
Optimal Distance Threshold 14.0
K Statistic 0.145
p-value 0.79
ClinVar

Number Of Residues 302
Number Of SNVs 7
Number Of Permutations 4493
Optimal Distance Threshold 17.0
K Statistic 0.333
p-value 0.467
COSMIC

Number Of Residues 302
Number Of SNVs 4
Number Of Permutations 103
Optimal Distance Threshold 5.0
K Statistic 0.167
p-value 0.106

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 77
Number Of ClinVar SNVs 7
Optimal Distance Threshold 6.0
K Statistic 0.033
p-value 0.525
Cosmic vs. ExAC

Number Of ExAC SNVs 77
Number Of COSMIC SNVs 4
Optimal Distance Threshold 5.0
K Statistic 0.162
p-value 0.076

Pathogenic Proximity Analysis

ClinVar PathProx Analysis
COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants