4J15.A | DARS

General Structure Information

PDB ID 4j15
HGNC Gene Label(s) DARS
Structure Name crystal structure of human cytosolic aspartyl-trna synthetase, a component of multi-trna synthetase complex
Resolution 2.24Å
Reference AUTH K.R.KIM,S.H.PARK,H.S.KIM,K.H.RHEE,B.-G.KIM,D.G.KIM,M.S.PARK,AUTH 2 H.-J.KIM,S.KIM,B.W.HANTITL CRYSTAL STRUCTURE OF HUMAN CYTOSOLIC ASPARTYL-TRNATITL 2 SYNTHETASE, A COMPONENT OF MULTI-TRNA SYNTHETASE COMPLEXREF PROTEINS V. 81 1840 2013REFN ISSN 0887-3585PMID 23609930DOI 10.1002/PROT.24306

Variant Set Distributions

ExAC Variants

Number Of Residues 431
Number Of SNVs 119
Number Of Permutations 31605
Optimal Distance Threshold 11.0
K Statistic 0.047
p-value 0.479
ClinVar

Number Of Residues 431
Number Of SNVs 3
Number Of Permutations 337
Optimal Distance Threshold 29.0
K Statistic 0.0
p-value 0.323
COSMIC

Number Of Residues 431
Number Of SNVs 5
Number Of Permutations 621
Optimal Distance Threshold 6.0
K Statistic 0.1
p-value 0.902

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 119
Number Of ClinVar SNVs 3
Optimal Distance Threshold 29.0
K Statistic -0.405
p-value 0.32
Cosmic vs. ExAC

Number Of ExAC SNVs 119
Number Of COSMIC SNVs 5
Optimal Distance Threshold 6.0
K Statistic 0.09
p-value 0.589

Pathogenic Proximity Analysis

ClinVar PathProx Analysis
COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants