3C6K.D | SMS

General Structure Information

PDB ID 3c6k
HGNC Gene Label(s) SMS
Structure Name crystal structure of human spermine synthase in complex with spermidine and 5-methylthioadenosine
Resolution 1.95Å
Reference AUTH H.WU,J.MIN,H.ZENG,D.E.MCCLOSKEY,Y.IKEGUCHI,AUTH 2 P.LOPPNAU,A.J.MICHAEL,A.E.PEGG,A.N.PLOTNIKOVTITL CRYSTAL STRUCTURE OF HUMAN SPERMINE SYNTHASE:TITL 2 IMPLICATIONS OF SUBSTRATE BINDING AND CATALYTICTITL 3 MECHANISM.REF J.BIOL.CHEM. V. 283 16135 2008REFN ISSN 0021-9258PMID 18367445DOI 10.1074/JBC.M710323200

Variant Set Distributions

ExAC Variants

Number Of Residues 346
Number Of SNVs 34
Number Of Permutations 28415
Optimal Distance Threshold 24.0
K Statistic 0.271
p-value 0.035
ClinVar

Number Of Residues 346
Number Of SNVs 7
Number Of Permutations 4583
Optimal Distance Threshold 7.0
K Statistic 0.095
p-value 0.712

Ripley’s K Analysis Plots

ExACClinVar

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 34
Number Of ClinVar SNVs 7
Optimal Distance Threshold 7.0
K Statistic 0.079
p-value 0.922

Pathogenic Proximity Analysis

ClinVar PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants