3PUF.A | RNASEH2A

General Structure Information

PDB ID 3puf
HGNC Gene Label(s) RNASEH2A
Structure Name crystal structure of human rnase h2 complex
Resolution 3.1Å
Reference AUTH M.FIGIEL,H.CHON,S.M.CERRITELLI,M.CYBULSKA,R.J.CROUCH,AUTH 2 M.NOWOTNYTITL THE STRUCTURAL AND BIOCHEMICAL CHARACTERIZATION OF HUMANTITL 2 RNASE H2 COMPLEX REVEALS THE MOLECULAR BASIS FOR SUBSTRATETITL 3 RECOGNITION AND AICARDI-GOUTIERES SYNDROME DEFECTS.REF J.BIOL.CHEM. V. 286 10540 2011REFN ISSN 0021-9258PMID 21177858DOI 10.1074/JBC.M110.181974

Variant Set Distributions

ExAC Variants

Number Of Residues 270
Number Of SNVs 78
Number Of Permutations 24931
Optimal Distance Threshold 26.0
K Statistic 0.485
p-value 0.674
ClinVar

Number Of Residues 270
Number Of SNVs 7
Number Of Permutations 1896
Optimal Distance Threshold 11.0
K Statistic 0.333
p-value 0.022
COSMIC

Number Of Residues 270
Number Of SNVs 5
Number Of Permutations 1222
Optimal Distance Threshold 21.0
K Statistic 0.2
p-value 0.759

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 78
Number Of ClinVar SNVs 7
Optimal Distance Threshold 11.0
K Statistic 0.252
p-value 0.027
Cosmic vs. ExAC

Number Of ExAC SNVs 78
Number Of COSMIC SNVs 5
Optimal Distance Threshold 11.0
K Statistic -0.081
p-value 0.714

Pathogenic Proximity Analysis

ClinVar PathProx Analysis
COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants