1S31.A | TUB

General Structure Information

PDB ID 1s31
HGNC Gene Label(s) TUB
Structure Name crystal structure analysis of the human tub protein (isoform a) spanning residues 289 through 561
Resolution 2.7Å
Reference AUTH S.BOUTBOUL,K.J.CARROLL,A.BASDEVANT,C.GOMEZ,E.NANDROT,AUTH 2 K.CLEMENT,L.SHAPIRO,M.ABITBOLTITL A NOVEL HUMAN OBESITY AND SENSORY DEFICIT SYNDROME RESULTINGTITL 2 FROM A MUTATION IN THE TUB GENEREF TO BE PUBLISHEDREFN

Variant Set Distributions

ExAC Variants

Number Of Residues 273
Number Of SNVs 74
Number Of Permutations 53892
Optimal Distance Threshold 10.0
K Statistic 0.049
p-value 0.249
COSMIC

Number Of Residues 273
Number Of SNVs 7
Number Of Permutations 864
Optimal Distance Threshold 16.0
K Statistic 0.095
p-value 0.589

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs 74
Number Of COSMIC SNVs 7
Optimal Distance Threshold 32.0
K Statistic -0.148
p-value 0.716

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants