2OAY.A | SERPING1

General Structure Information

PDB ID 2oay
HGNC Gene Label(s) SERPING1
Structure Name crystal structure of latent human c1-inhibitor
Resolution 2.35Å
Reference AUTH L.BEINROHR,V.HARMAT,J.DOBO,Z.LORINCZ,P.GAL,P.ZAVODSZKYTITL C1 INHIBITOR SERPIN DOMAIN STRUCTURE REVEALS THE LIKELYTITL 2 MECHANISM OF HEPARIN POTENTIATION AND CONFORMATIONAL DISEASEREF J.BIOL.CHEM. V. 282 21100 2007REFN ISSN 0021-9258PMID 17488724DOI 10.1074/JBC.M700841200

Variant Set Distributions

ExAC Variants

Number Of Residues 368
Number Of SNVs 80
Number Of Permutations 13777
Optimal Distance Threshold 13.0
K Statistic 0.087
p-value 0.205
ClinVar

Number Of Residues 368
Number Of SNVs 4
Number Of Permutations 396
Optimal Distance Threshold 6.0
K Statistic 0.167
p-value 0.07
COSMIC

Number Of Residues 368
Number Of SNVs 5
Number Of Permutations 191
Optimal Distance Threshold 16.0
K Statistic 0.1
p-value 0.863

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 80
Number Of ClinVar SNVs 4
Optimal Distance Threshold 5.0
K Statistic 0.162
p-value 0.052
Cosmic vs. ExAC

Number Of ExAC SNVs 80
Number Of COSMIC SNVs 3
Optimal Distance Threshold 30.0
K Statistic -0.276
p-value 1.0

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants