2QV2.A | OCRL

General Structure Information

PDB ID 2qv2
HGNC Gene Label(s) OCRL
Structure Name a role of the lowe syndrome protein ocrl in early steps of the endocytic pathway
Resolution 2.4Å
Reference AUTH K.S.ERDMANN,Y.MAO,H.J.MCCREA,R.ZONCU,S.LEE,AUTH 2 S.PARADISE,J.MODREGGER,D.BIEMESDERFER,D.TOOMRE,AUTH 3 P.DE CAMILLITITL A ROLE OF THE LOWE SYNDROME PROTEIN OCRL IN EARLYTITL 2 STEPS OF THE ENDOCYTIC PATHWAYREF DEV.CELL V. 13 377 2007REFN ISSN 1534-5807PMID 17765681DOI 10.1016/J.DEVCEL.2007.08.004

Variant Set Distributions

ExAC Variants

Number Of Residues 305
Number Of SNVs 36
Number Of Permutations 28457
Optimal Distance Threshold 13.0
K Statistic 0.083
p-value 0.805
COSMIC

Number Of Residues 305
Number Of SNVs 4
Number Of Permutations 488
Optimal Distance Threshold 16.0
K Statistic 0.333
p-value 0.442

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs 36
Number Of COSMIC SNVs 3
Optimal Distance Threshold 16.0
K Statistic 0.167
p-value 0.819

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants