4DG6.A | LRP6

General Structure Information

PDB ID 4dg6
HGNC Gene Label(s) LRP6
Structure Name crystal structure of domains 1 and 2 of lrp6
Resolution 2.9Å
Reference AUTH G.HOLDSWORTH,P.SLOCOMBE,C.DOYLE,B.SWEENEY,V.VEVERKA,AUTH 2 K.LE RICH,R.J.FRANKLIN,D.BROOKINGS,J.TURNER,J.KENNEDY,AUTH 3 R.GARLISH,J.SHI,L.NEWNHAM,D.MCMILLAN,M.MUZYLAK,M.CARR,AUTH 4 A.J.HENRY,T.CESKA,M.K.ROBINSONTITL CHARACTERIZATION OF THE INTERACTION OF SCLEROSTIN WITH THETITL 2 LRP FAMILY OF WNT CO-RECEPTORSREF TO BE PUBLISHEDREFN

Variant Set Distributions

ExAC Variants

Number Of Residues 616
Number Of SNVs 120
Number Of Permutations 33721
Optimal Distance Threshold 6.0
K Statistic 0.006
p-value 0.897
ClinVar

Number Of Residues 616
Number Of SNVs 4
Number Of Permutations 1093
Optimal Distance Threshold 27.0
K Statistic 0.667
p-value 0.33
COSMIC

Number Of Residues 616
Number Of SNVs 10
Number Of Permutations 3666
Optimal Distance Threshold 33.0
K Statistic 0.756
p-value 0.033

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 120
Number Of ClinVar SNVs 4
Optimal Distance Threshold 27.0
K Statistic 0.339
p-value 0.375
Cosmic vs. ExAC

Number Of ExAC SNVs 120
Number Of COSMIC SNVs 8
Optimal Distance Threshold 33.0
K Statistic 0.496
p-value 0.011

Pathogenic Proximity Analysis

ClinVar PathProx Analysis
COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants