2XSN.D | TH

General Structure Information

PDB ID 2xsn
HGNC Gene Label(s) TH
Structure Name crystal structure of human tyrosine hydroxylase catalytic domain
Resolution 2.68Å
Reference AUTH J.R.C.MUNIZ,C.D.O.COOPER,W.W.YUE,E.KRYSZTOFINSKA,AUTH 2 F.VON DELFT,S.KNAPP,O.GILEADI,C.H.ARROWSMITH,A.M.EDWARDS,AUTH 3 J.WEIGELT,C.BOUNTRA,K.L.KAVANAGH,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN TYROSINE HYDROXYLASE CATALYTICTITL 2 DOMAINREF TO BE PUBLISHEDREFN

Variant Set Distributions

ExAC Variants

Number Of Residues 335
Number Of SNVs 65
Number Of Permutations 13703
Optimal Distance Threshold 22.0
K Statistic 0.285
p-value 0.081
ClinVar

Number Of Residues 335
Number Of SNVs 8
Number Of Permutations 1499
Optimal Distance Threshold 7.0
K Statistic 0.071
p-value 0.571
COSMIC

Number Of Residues 335
Number Of SNVs 3
Number Of Permutations 27
Optimal Distance Threshold 12.0
K Statistic 0.333
p-value 0.496

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 65
Number Of ClinVar SNVs 8
Optimal Distance Threshold 7.0
K Statistic 0.049
p-value 0.363
Cosmic vs. ExAC

Number Of ExAC SNVs 65
Number Of COSMIC SNVs 3
Optimal Distance Threshold 12.0
K Statistic 0.25
p-value 0.314

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants