1NR1.C | GLUD1

General Structure Information

PDB ID 1nr1
HGNC Gene Label(s) GLUD1
Structure Name crystal structure of the r463a mutant of human glutamate dehydrogenase
Resolution 3.3Å
Reference AUTH S.BANERJEE,T.SCHMIDT,J.FANG,C.A.STANLEY,T.J.SMITHTITL STRUCTURAL STUDIES ON ADP ACTIVATION OF MAMMALIANTITL 2 GLUTAMATE DEHYDROGENASE AND THE EVOLUTION OFTITL 3 REGULATIONREF BIOCHEMISTRY V. 42 3446 2003REFN ISSN 0006-2960PMID 12653548DOI 10.1021/BI0206917

Variant Set Distributions

ExAC Variants

Number Of Residues 496
Number Of SNVs 58
Number Of Permutations 20565
Optimal Distance Threshold 6.0
K Statistic 0.013
p-value 0.559
ClinVar

Number Of Residues 496
Number Of SNVs 9
Number Of Permutations 2664
Optimal Distance Threshold 6.0
K Statistic 0.167
p-value 0.0

Ripley’s K Analysis Plots

ExACClinVar

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 58
Number Of ClinVar SNVs 9
Optimal Distance Threshold 18.0
K Statistic 0.649
p-value 0.0

Pathogenic Proximity Analysis

ClinVar PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants