2JBH.A | PRTFDC1

General Structure Information

PDB ID 2jbh
HGNC Gene Label(s) PRTFDC1
Structure Name human phosphoribosyl transferase domain containing 1
Resolution 1.7Å
Reference AUTH M.WELIN,L.EGEBLAD,A.JOHANSSON,P.STENMARK,L.WANG,S.FLODIN,AUTH 2 T.NYMAN,L.TRESAUGUES,T.KOTENYOVA,I.JOHANSSON,S.ERIKSSON,AUTH 3 H.EKLUND,P.NORDLUNDTITL STRUCTURAL AND FUNCTIONAL STUDIES OF THE HUMANTITL 2 PHOSPHORIBOSYLTRANSFERASE DOMAIN CONTAINING PROTEIN 1.REF FEBS J. V. 277 4920 2010REFN ISSN 1742-464XPMID 21054786DOI 10.1111/J.1742-4658.2010.07897.X

Variant Set Distributions

ExAC Variants

Number Of Residues 207
Number Of SNVs 62
Number Of Permutations 6394
Optimal Distance Threshold 7.0
K Statistic 0.028
p-value 0.237
COSMIC

Number Of Residues 207
Number Of SNVs 4
Number Of Permutations 44
Optimal Distance Threshold 18.0
K Statistic 0.167
p-value 0.817

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants