2C46.B | RNGTT

General Structure Information

PDB ID 2c46
HGNC Gene Label(s) RNGTT
Structure Name crystal structure of the human rna guanylyltransferase and 5-phosphatase
Resolution 1.6Å
Reference AUTH J.DEBRECZENI,C.JOHANSSON,E.LONGMAN,O.GILEADI,P.SAVITSKYSMEE,AUTH 2 C.SMEE,G.BUNKOCZI,E.UGOCHUKWU,F.VON DELFT,M.SUNDSTROM,AUTH 3 J.WEIGELT,C.ARROWSMITH,A.EDWARDS,S.KNAPPTITL CRYSTAL STRUCTURE OF THE HUMAN RNA GUANYLYLTRANSFERASE ANDTITL 2 5-PHOSPHATASEREF TO BE PUBLISHEDREFN

Variant Set Distributions

ExAC Variants

Number Of Residues 194
Number Of SNVs 23
Number Of Permutations 2814
Optimal Distance Threshold 16.0
K Statistic 0.186
p-value 0.051
COSMIC

Number Of Residues 194
Number Of SNVs 3
Number Of Permutations 288
Optimal Distance Threshold 41.0
K Statistic 0.667
p-value 0.318

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs 23
Number Of COSMIC SNVs 3
Optimal Distance Threshold 20.0
K Statistic -0.328
p-value 0.585

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants