1LM7.A | DSP

General Structure Information

PDB ID 1lm7
HGNC Gene Label(s) DSP
Structure Name structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure
Resolution 3.0Å
Reference AUTH H.J.CHOI,S.PARK-SNYDER,L.T.PASCOE,K.J.GREEN,AUTH 2 W.I.WEISTITL STRUCTURES OF TWO INTERMEDIATE FILAMENT-BINDINGTITL 2 FRAGMENTS OF DESMOPLAKIN REVEAL A UNIQUE REPEATTITL 3 MOTIF STRUCTURE.REF NAT.STRUCT.BIOL. V. 9 612 2002REFN ISSN 1072-8368PMID 12101406

Variant Set Distributions

ExAC Variants

Number Of Residues 238
Number Of SNVs 33
Number Of Permutations 4886
Optimal Distance Threshold 7.0
K Statistic 0.017
p-value 0.098
ClinVar
COSMIC

Number Of Residues 238
Number Of SNVs 7
Number Of Permutations 1186
Optimal Distance Threshold 4.0
K Statistic 0.048
p-value 0.729

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC
Cosmic vs. ExAC

Number Of ExAC SNVs 33
Number Of COSMIC SNVs 6
Optimal Distance Threshold 4.0
K Statistic 0.065
p-value 0.829

Pathogenic Proximity Analysis

ClinVar PathProx Analysis
COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants