2K27.A | PAX8

General Structure Information

PDB ID 2k27
HGNC Gene Label(s) PAX8
Structure Name solution structure of human pax8 paired box domain
Resolution -1.0Å
Reference AUTH L.CODUTTI,H.VAN INGEN,C.VASCOTTO,F.FOGOLARI,AUTH 2 A.CORAZZA,G.TELL,F.QUADRIFOGLIO,P.VIGLINO,AUTH 3 R.BOELENS,G.ESPOSITOTITL THE SOLUTION STRUCTURE OF DNA-FREE PAX-8 PAIRED BOXTITL 2 DOMAIN ACCOUNTS FOR REDOX REGULATION OFTITL 3 TRANSCRIPTIONAL ACTIVITY IN THE PAX PROTEIN FAMILY.REF J.BIOL.CHEM. V. 283 33321 2008REFN ISSN 0021-9258PMID 18829450DOI 10.1074/JBC.M805717200

Variant Set Distributions

ExAC Variants

Number Of Residues 143
Number Of SNVs 27
Number Of Permutations 32348
Optimal Distance Threshold 6.0
K Statistic 0.028
p-value 0.77
ClinVar

Number Of Residues 143
Number Of SNVs 6
Number Of Permutations 5065
Optimal Distance Threshold 23.0
K Statistic 1.0
p-value 0.004

Ripley’s K Analysis Plots

ExACClinVar

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 27
Number Of ClinVar SNVs 6
Optimal Distance Threshold 23.0
K Statistic 0.652
p-value 0.025

Pathogenic Proximity Analysis

ClinVar PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants