1SO0.D | GALM

General Structure Information

PDB ID 1so0
HGNC Gene Label(s) GALM
Structure Name crystal structure of human galactose mutarotase complexed with galactose
Resolution 2.3Å
Reference AUTH J.B.THODEN,D.J.TIMSON,R.J.REECE,H.M.HOLDENTITL MOLECULAR STRUCTURE OF HUMAN GALACTOSE MUTAROTASEREF J.BIOL.CHEM. V. 279 23431 2004REFN ISSN 0021-9258PMID 15026423DOI 10.1074/JBC.M402347200

Variant Set Distributions

ExAC Variants

Number Of Residues 342
Number Of SNVs 98
Number Of Permutations 40471
Optimal Distance Threshold 18.0
K Statistic 0.233
p-value 0.438
COSMIC

Number Of Residues 342
Number Of SNVs 5
Number Of Permutations 981
Optimal Distance Threshold 29.0
K Statistic 0.3
p-value 0.264

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs 98
Number Of COSMIC SNVs 5
Optimal Distance Threshold 22.0
K Statistic -0.372
p-value 0.013

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants