3HFV.A | FARS2

General Structure Information

PDB ID 3hfv
HGNC Gene Label(s) FARS2
Structure Name crystal structure of human mitochondrial phenylalanyl-trna synthetase complexed with m-tyrosine
Resolution 2.6Å
Reference AUTH L.KLIPCAN,N.MOOR,N.KESSLER,M.G.SAFROTITL EUKARYOTIC CYTOSOLIC AND MITOCHONDRIALTITL 2 PHENYLALANYL-TRNA SYNTHETASES CATALYZE THE CHARGINGTITL 3 OF TRNA WITH THE META-TYROSINEREF PROC.NATL.ACAD.SCI.USA V. 106 11045 2009REFN ISSN 0027-8424PMID 19549855DOI 10.1073/PNAS.0905212106

Variant Set Distributions

ExAC Variants

Number Of Residues 405
Number Of SNVs 123
Number Of Permutations 33389
Optimal Distance Threshold 7.0
K Statistic 0.014
p-value 0.786
ClinVar

Number Of Residues 405
Number Of SNVs 10
Number Of Permutations 2532
Optimal Distance Threshold 20.0
K Statistic 0.333
p-value 0.409
COSMIC

Number Of Residues 405
Number Of SNVs 5
Number Of Permutations 291
Optimal Distance Threshold 8.0
K Statistic 0.2
p-value 0.044

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 123
Number Of ClinVar SNVs 10
Optimal Distance Threshold 20.0
K Statistic 0.098
p-value 0.392
Cosmic vs. ExAC

Number Of ExAC SNVs 123
Number Of COSMIC SNVs 4
Optimal Distance Threshold 8.0
K Statistic 0.311
p-value 0.024

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants