3GD7.C | CFTR

General Structure Information

PDB ID 3gd7
HGNC Gene Label(s) CFTR
Structure Name crystal structure of human nbd2 complexed with n6- phenylethyl-atp (p-atp)
Resolution 2.7Å
Reference AUTH S.ATWELL,S.ANTONYSAMY,W.B.GUGGINO,K.CONNERS,AUTH 2 S.EMTAGE,T.GHEYI,J.F.HUNT,H.A.LEWIS,F.LU,AUTH 3 J.M.SAUDER,P.C.WEBER,D.WETMORE,X.ZHAOTITL CRYSTAL STRUCTURE OF HUMAN NBD2 COMPLEXED WITHTITL 2 N6-PHENYLETHYL-ATP (P-ATP)REF TO BE PUBLISHEDREFN

Variant Set Distributions

ExAC Variants

Number Of Residues 233
Number Of SNVs 78
Number Of Permutations 11280
Optimal Distance Threshold 7.0
K Statistic 0.034
p-value 0.548
ClinVar

Number Of Residues 233
Number Of SNVs 16
Number Of Permutations 2123
Optimal Distance Threshold 8.0
K Statistic 0.067
p-value 0.577
COSMIC

Number Of Residues 233
Number Of SNVs 5
Number Of Permutations 468
Optimal Distance Threshold 18.0
K Statistic 0.1
p-value 0.655

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 78
Number Of ClinVar SNVs 12
Optimal Distance Threshold 5.0
K Statistic 0.024
p-value 0.278
Cosmic vs. ExAC

Number Of ExAC SNVs 78
Number Of COSMIC SNVs 5
Optimal Distance Threshold 19.0
K Statistic -0.24
p-value 0.533

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants