3SNH.A | DNM1

General Structure Information

PDB ID 3snh
HGNC Gene Label(s) DNM1
Structure Name crystal structure of nucleotide-free human dynamin1
Resolution 3.7Å
Reference AUTH K.FAELBER,Y.POSOR,S.GAO,M.HELD,Y.ROSKE,D.SCHULZE,V.HAUCKE,AUTH 2 F.NOE,O.DAUMKETITL CRYSTAL STRUCTURE OF NUCLEOTIDE-FREE DYNAMIN.REF NATURE V. 477 556 2011REFN ISSN 0028-0836PMID 21927000DOI 10.1038/NATURE10369

Variant Set Distributions

ExAC Variants

Number Of Residues 652
Number Of SNVs 77
Number Of Permutations 33450
Optimal Distance Threshold 44.0
K Statistic 0.5
p-value 0.465
ClinVar

Number Of Residues 652
Number Of SNVs 3
Number Of Permutations 591
Optimal Distance Threshold 7.0
K Statistic 0.333
p-value 0.358
COSMIC

Number Of Residues 652
Number Of SNVs 9
Number Of Permutations 13394
Optimal Distance Threshold 27.0
K Statistic 0.389
p-value 0.432

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 77
Number Of ClinVar SNVs 3
Optimal Distance Threshold 7.0
K Statistic 0.326
p-value 0.351
Cosmic vs. ExAC

Number Of ExAC SNVs 77
Number Of COSMIC SNVs 7
Optimal Distance Threshold 26.0
K Statistic 0.35
p-value 0.136

Pathogenic Proximity Analysis

ClinVar PathProx Analysis
COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants