1QK9.A | MECP2

General Structure Information

PDB ID 1qk9
HGNC Gene Label(s) MECP2
Structure Name the solution structure of the domain from mecp2 that binds to methylated dna
Resolution -1.0Å
Reference AUTH R.I.D.WAKEFIELD,B.O.SMITH,X.NAN,A.FREE,A.SOTERIOU,AUTH 2 D.UHRIN,A.P.BIRD,P.N.BARLOWTITL THE SOLUTION STRUCTURE OF THE DOMAIN FROM MECP2TITL 2 THAT BINDS TO METHYLATED DNAREF J.MOL.BIOL. V. 291 1055 1999REFN ISSN 0022-2836 70PMID 10518942DOI 10.1006/JMBI.1999.3023

Variant Set Distributions

ExAC Variants

Number Of Residues 90
Number Of SNVs 10
Number Of Permutations 7374
Optimal Distance Threshold 20.0
K Statistic 0.267
p-value 0.068
ClinVar

Number Of Residues 90
Number Of SNVs 9
Number Of Permutations 6529
Optimal Distance Threshold 20.0
K Statistic 0.917
p-value 0.063

Ripley’s K Analysis Plots

ExACClinVar

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 10
Number Of ClinVar SNVs 6
Optimal Distance Threshold 10.0
K Statistic 0.222
p-value 0.036

Pathogenic Proximity Analysis

ClinVar PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants