1ZDT.B | NR5A1

General Structure Information

PDB ID 1zdt
HGNC Gene Label(s) NR5A1
Structure Name the crystal structure of human steroidogenic factor-1
Resolution 2.1Å
Reference AUTH W.WANG,C.ZHANG,A.MARIMUTHU,H.I.KRUPKA,M.TABRIZIZAD,AUTH 2 R.SHELLOE,U.MEHRA,K.ENG,H.NGUYEN,C.SETTACHATGUL,B.POWELL,AUTH 3 M.V.MILBURN,B.L.WESTTITL THE CRYSTAL STRUCTURES OF HUMAN STEROIDOGENIC FACTOR-1 ANDTITL 2 LIVER RECEPTOR HOMOLOGUE-1REF PROC.NATL.ACAD.SCI.USA V. 102 7505 2005REFN ISSN 0027-8424PMID 15897460DOI 10.1073/PNAS.0409482102

Variant Set Distributions

ExAC Variants

Number Of Residues 239
Number Of SNVs 43
Number Of Permutations 21431
Optimal Distance Threshold 19.0
K Statistic 0.25
p-value 0.006
ClinVar

Number Of Residues 239
Number Of SNVs 3
Number Of Permutations 209
Optimal Distance Threshold 18.0
K Statistic 0.0
p-value 0.698

Ripley’s K Analysis Plots

ExACClinVar

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 43
Number Of ClinVar SNVs 3
Optimal Distance Threshold 18.0
K Statistic -0.226
p-value 0.866

Pathogenic Proximity Analysis

ClinVar PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants