2HDH.B | HADH

General Structure Information

PDB ID 2hdh
HGNC Gene Label(s) HADH
Structure Name biochemical characterization and structure determination of human heart short chain l-3-hydroxyacyl coa dehydrogenase provide insight into catalytic mechanism
Resolution 2.2Å
Reference AUTH J.J.BARYCKI,L.K.OBRIEN,J.M.BRATT,R.ZHANG,R.SANISHVILI,AUTH 2 A.W.STRAUSS,L.J.BANASZAKTITL BIOCHEMICAL CHARACTERIZATION AND CRYSTAL STRUCTURETITL 2 DETERMINATION OF HUMAN HEART SHORT CHAIN L-3-HYDROXYACYL-COATITL 3 DEHYDROGENASE PROVIDE INSIGHTS INTO CATALYTIC MECHANISM.REF BIOCHEMISTRY V. 38 5786 1999REFN ISSN 0006-2960PMID 10231530DOI 10.1021/BI9829027

Variant Set Distributions

ExAC Variants

Number Of Residues 284
Number Of SNVs 79
Number Of Permutations 14024
Optimal Distance Threshold 10.0
K Statistic 0.072
p-value 0.153
ClinVar

Number Of Residues 284
Number Of SNVs 4
Number Of Permutations 429
Optimal Distance Threshold 11.0
K Statistic 0.333
p-value 0.214

Ripley’s K Analysis Plots

ExACClinVar

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 79
Number Of ClinVar SNVs 4
Optimal Distance Threshold 7.0
K Statistic 0.14
p-value 0.288

Pathogenic Proximity Analysis

ClinVar PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants