1ZMD.A | DLD

General Structure Information

PDB ID 1zmd
HGNC Gene Label(s) DLD
Structure Name crystal structure of human dihydrolipoamide dehydrogenase complexed to nadh
Resolution 2.08Å
Reference AUTH C.A.BRAUTIGAM,J.L.CHUANG,D.R.TOMCHICK,M.MACHIUS,AUTH 2 D.T.CHUANGTITL CRYSTAL STRUCTURE OF HUMAN DIHYDROLIPOAMIDETITL 2 DEHYDROGENASE: NAD+/NADH BINDING AND THETITL 3 STRUCTURAL BASIS OF DISEASE-CAUSING MUTATIONSREF J.MOL.BIOL. V. 350 543 2005REFN ISSN 0022-2836PMID 15946682DOI 10.1016/J.JMB.2005.05.014

Variant Set Distributions

ExAC Variants

Number Of Residues 472
Number Of SNVs 103
Number Of Permutations 46543
Optimal Distance Threshold 22.0
K Statistic 0.234
p-value 0.039
ClinVar

Number Of Residues 472
Number Of SNVs 14
Number Of Permutations 7828
Optimal Distance Threshold 12.0
K Statistic 0.121
p-value 0.313
COSMIC

Number Of Residues 472
Number Of SNVs 7
Number Of Permutations 1509
Optimal Distance Threshold 18.0
K Statistic 0.095
p-value 0.903

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 103
Number Of ClinVar SNVs 14
Optimal Distance Threshold 5.0
K Statistic 0.017
p-value 0.158
Cosmic vs. ExAC

Number Of ExAC SNVs 103
Number Of COSMIC SNVs 7
Optimal Distance Threshold 11.0
K Statistic 0.045
p-value 0.714

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants

Related Entries
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2WTK|STRADA,CAB39,STK11