2ZT7.A | GARS

General Structure Information

PDB ID 2zt7
HGNC Gene Label(s) GARS
Structure Name crystal structure of human glycyl-trna synthetase (glyrs) in complex with glycine and atp
Resolution 2.7Å
Reference AUTH R.T.GUO,Y.E.CHONG,M.GUO,X.L.YANGTITL CRYSTAL STRUCTURES AND BIOCHEMICAL ANALYSES SUGGESTTITL 2 UNIQUE MECHANISM AND ROLE FOR HUMAN GLYRS IN AP4ATITL 3 HOMEOSTASISREF TO BE PUBLISHEDREFN

Variant Set Distributions

ExAC Variants

Number Of Residues 530
Number Of SNVs 110
Number Of Permutations 60879
Optimal Distance Threshold 7.0
K Statistic 0.016
p-value 0.318
ClinVar

Number Of Residues 530
Number Of SNVs 5
Number Of Permutations 1891
Optimal Distance Threshold 14.0
K Statistic 0.4
p-value 0.028
COSMIC

Number Of Residues 530
Number Of SNVs 5
Number Of Permutations 817
Optimal Distance Threshold 13.0
K Statistic 0.2
p-value 0.403

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 110
Number Of ClinVar SNVs 5
Optimal Distance Threshold 14.0
K Statistic 0.318
p-value 0.038
Cosmic vs. ExAC

Number Of ExAC SNVs 110
Number Of COSMIC SNVs 5
Optimal Distance Threshold 13.0
K Statistic 0.131
p-value 0.698

Pathogenic Proximity Analysis

ClinVar PathProx Analysis
COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants