2CH0.A | LEMD3

General Structure Information

PDB ID 2ch0
HGNC Gene Label(s) LEMD3
Structure Name solution structure of the human man1 c-terminal domain (residues 655-775)
Resolution -1.0Å
Reference AUTH S.CAPUTO,J.COUPRIE,I.DUBAND-GOULET,F.LIN,S.BRAUD,AUTH 2 M.GONDRY,H.J.WORMAN,B.GILQUIN,S.ZINN-JUSTINTITL THE CARBOXYL-TERMINAL NUCLEOPLASMIC REGION OF MAN1TITL 2 EXHIBITS A DNA BINDING WINGED HELIX DOMAIN.REF J.BIOL.CHEM. V. 281 18208 2006REFN ISSN 0021-9258PMID 16648637DOI 10.1074/JBC.M601980200

Variant Set Distributions

ExAC Variants

Number Of Residues 121
Number Of SNVs 31
Number Of Permutations 19292
Optimal Distance Threshold 18.0
K Statistic 0.499
p-value 0.018
COSMIC

Number Of Residues 121
Number Of SNVs 6
Number Of Permutations 3852
Optimal Distance Threshold 19.0
K Statistic 0.2
p-value 0.698

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs 31
Number Of COSMIC SNVs 6
Optimal Distance Threshold 19.0
K Statistic -0.325
p-value 0.367

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants