1T2A.D | GMDS

General Structure Information

PDB ID 1t2a
HGNC Gene Label(s) GMDS
Structure Name crystal structure of human gdp-d-mannose 4,6-dehydratase
Resolution 1.84Å
Reference AUTH M.VEDADI,J.R.WALKER,S.SHARMA,S.HOUSTON,G.WASNEY,AUTH 2 P.LOPPNAU,U.OPPERMANNTITL CRYSTAL STRUCTURE AND BIOPHYSICAL CHARACTERIZATIONTITL 2 OF HUMAN GDP-D-MANNOSE 4,6-DEHYDRATASEREF TO BE PUBLISHEDREFN

Variant Set Distributions

ExAC Variants

Number Of Residues 337
Number Of SNVs 62
Number Of Permutations 31100
Optimal Distance Threshold 12.0
K Statistic 0.072
p-value 0.143
COSMIC

Number Of Residues 337
Number Of SNVs 6
Number Of Permutations 2143
Optimal Distance Threshold 21.0
K Statistic 0.133
p-value 0.525

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs 62
Number Of COSMIC SNVs 6
Optimal Distance Threshold 21.0
K Statistic -0.182
p-value 0.982

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants