4CDG.B | BLM

General Structure Information

PDB ID 4cdg
HGNC Gene Label(s) BLM
Structure Name crystal structure of the blooms syndrome helicase blm in complex with nanobody
Resolution 2.79Å
Reference AUTH J.A.NEWMAN,P.SAVITSKY,C.K.ALLERSTON,A.H.BIZARD,O.OZER,AUTH 2 K.SARLOS,Y.LIU,E.PARDON,J.STEYAERT,I.D.HICKSON,O.GILEADITITL CRYSTAL STRUCTURE OF THE BLOOMS SYNDROME HELICASETITL 2 INDICATES A ROLE FOR THE HRDC DOMAIN IN CONFORMATIONALTITL 3 CHANGES.REF NUCLEIC ACIDS RES. V. 43 5221 2015REFN ISSN 0305-1048PMID 25901030DOI 10.1093/NAR/GKV373

Variant Set Distributions

ExAC Variants

Number Of Residues 616
Number Of SNVs 152
Number Of Permutations 78705
Optimal Distance Threshold 31.0
K Statistic 0.375
p-value 0.591
ClinVar

Number Of Residues 616
Number Of SNVs 8
Number Of Permutations 6450
Optimal Distance Threshold 10.0
K Statistic 0.214
p-value 0.016
COSMIC

Number Of Residues 616
Number Of SNVs 9
Number Of Permutations 6148
Optimal Distance Threshold 24.0
K Statistic 0.361
p-value 0.334

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 152
Number Of ClinVar SNVs 8
Optimal Distance Threshold 10.0
K Statistic 0.187
p-value 0.014
Cosmic vs. ExAC

Number Of ExAC SNVs 152
Number Of COSMIC SNVs 8
Optimal Distance Threshold 45.0
K Statistic 0.193
p-value 0.368

Pathogenic Proximity Analysis

ClinVar PathProx Analysis
COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants

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