1EFV.A | ETFA

General Structure Information

PDB ID 1efv
HGNC Gene Label(s) ETFA
Structure Name three-dimensional structure of human electron transfer flavoprotein to 2.1 a resolution
Resolution 2.1Å
Reference AUTH D.L.ROBERTS,F.E.FRERMAN,J.J.KIMTITL THREE-DIMENSIONAL STRUCTURE OF HUMAN ELECTRONTITL 2 TRANSFER FLAVOPROTEIN TO 2.1-A RESOLUTION.REF PROC.NATL.ACAD.SCI.USA V. 93 14355 1996REFN ISSN 0027-8424PMID 8962055DOI 10.1073/PNAS.93.25.14355

Variant Set Distributions

ExAC Variants

Number Of Residues 312
Number Of SNVs 67
Number Of Permutations 11695
Optimal Distance Threshold 13.0
K Statistic 0.131
p-value 0.272
ClinVar

Number Of Residues 312
Number Of SNVs 3
Number Of Permutations 177
Optimal Distance Threshold 19.0
K Statistic 0.667
p-value 0.776

Ripley’s K Analysis Plots

ExACClinVar

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 67
Number Of ClinVar SNVs 3
Optimal Distance Threshold 15.0
K Statistic -0.18
p-value 0.965

Pathogenic Proximity Analysis

ClinVar PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants