2GK1.G | HEXA

General Structure Information

PDB ID 2gk1
HGNC Gene Label(s) HEXA
Structure Name x-ray crystal structure of ngt-bound hexa
Resolution 3.25Å
Reference AUTH M.J.LEMIEUX,B.L.MARK,M.M.CHERNEY,S.G.WITHERS,D.J.MAHURAN,AUTH 2 M.N.JAMESTITL CRYSTALLOGRAPHIC STRUCTURE OF HUMAN BETA-HEXOSAMINIDASE A:TITL 2 INTERPRETATION OF TAY-SACHS MUTATIONS AND LOSS OF G(M2)TITL 3 GANGLIOSIDE HYDROLYSIS.REF J.MOL.BIOL. V. 359 913 2006REFN ISSN 0022-2836PMID 16698036DOI 10.1016/J.JMB.2006.04.004

Variant Set Distributions

ExAC Variants

Number Of Residues 492
Number Of SNVs 136
Number Of Permutations 41103
Optimal Distance Threshold 8.0
K Statistic 0.019
p-value 0.563
ClinVar

Number Of Residues 492
Number Of SNVs 28
Number Of Permutations 8481
Optimal Distance Threshold 14.0
K Statistic 0.18
p-value 0.001
COSMIC

Number Of Residues 492
Number Of SNVs 4
Number Of Permutations 683
Optimal Distance Threshold 17.0
K Statistic 0.333
p-value 0.533

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 136
Number Of ClinVar SNVs 27
Optimal Distance Threshold 14.0
K Statistic 0.091
p-value 0.009
Cosmic vs. ExAC

Number Of ExAC SNVs 136
Number Of COSMIC SNVs 4
Optimal Distance Threshold 41.0
K Statistic -0.461
p-value 0.455

Pathogenic Proximity Analysis

ClinVar PathProx Analysis
COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants

Related Entries
2WTK|STRADA,CAB39,STK11
3F5N|SERPINI1
2WTK|STRADA,CAB39,STK11