1RX0.C | ACAD8

General Structure Information

PDB ID 1rx0
HGNC Gene Label(s) ACAD8
Structure Name crystal structure of isobutyryl-coa dehydrogenase complexed with substrate/ligand.
Resolution 1.77Å
Reference AUTH K.P.BATTAILE,T.V.NGUYEN,J.VOCKLEY,J.J.KIMTITL STRUCTURES OF ISOBUTYRYL-COA DEHYDROGENASE ANDTITL 2 ENZYME-PRODUCT COMPLEX: COMPARISON WITHTITL 3 ISOVALERYL- AND SHORT-CHAIN ACYL-COATITL 4 DEHYDROGENASES.REF J.BIOL.CHEM. V. 279 16526 2004REFN ISSN 0021-9258PMID 14752098DOI 10.1074/JBC.M400034200

Variant Set Distributions

ExAC Variants

Number Of Residues 383
Number Of SNVs 104
Number Of Permutations 65543
Optimal Distance Threshold 9.0
K Statistic 0.04
p-value 0.935
ClinVar

Number Of Residues 383
Number Of SNVs 6
Number Of Permutations 3395
Optimal Distance Threshold 14.0
K Statistic 0.2
p-value 0.763
COSMIC

Number Of Residues 383
Number Of SNVs 4
Number Of Permutations 178
Optimal Distance Threshold 10.0
K Statistic 0.167
p-value 0.678

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 104
Number Of ClinVar SNVs 6
Optimal Distance Threshold 14.0
K Statistic 0.075
p-value 0.783
Cosmic vs. ExAC

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants