2QFZ.B | TBC1D22A

General Structure Information

PDB ID 2qfz
HGNC Gene Label(s) TBC1D22A
Structure Name crystal structure of human tbc1 domain family member 22a
Resolution 2.1Å
Reference AUTH Y.TONG,W.TEMPEL,S.DIMOV,A.DONG,R.LANDRY,AUTH 2 C.H.ARROWSMITH,A.M.EDWARDS,M.SUNDSTROM,J.WEIGELT,AUTH 3 A.BOCHKAREV,H.PARKTITL CRYSTAL STRUCTURE OF HUMAN TBC1 DOMAIN FAMILYTITL 2 MEMBER 22A.REF TO BE PUBLISHEDREFN

Variant Set Distributions

ExAC Variants

Number Of Residues 299
Number Of SNVs 70
Number Of Permutations 12181
Optimal Distance Threshold 14.0
K Statistic 0.13
p-value 0.795
COSMIC

Number Of Residues 299
Number Of SNVs 6
Number Of Permutations 562
Optimal Distance Threshold 4.0
K Statistic 0.067
p-value 0.289

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs 70
Number Of COSMIC SNVs 7
Optimal Distance Threshold 4.0
K Statistic 0.046
p-value 0.416

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants