4L3V.B | CBS

General Structure Information

PDB ID 4l3v
HGNC Gene Label(s) CBS
Structure Name crystal structure of delta516-525 human cystathionine beta-synthase
Resolution 3.63Å
Reference AUTH J.ERENO-ORBEA,T.MAJTAN,I.OYENARTE,J.P.KRAUS,AUTH 2 L.A.MARTINEZ-CRUZTITL STRUCTURAL BASIS OF REGULATION AND OLIGOMERIZATION OF HUMANTITL 2 CYSTATHIONINE BETA-SYNTHASE, THE CENTRAL ENZYME OFTITL 3 TRANSSULFURATION.REF PROC.NATL.ACAD.SCI.USA V. 110 E3790 2013REFN ISSN 0027-8424PMID 24043838DOI 10.1073/PNAS.1313683110

Variant Set Distributions

ExAC Variants

Number Of Residues 498
Number Of SNVs 133
Number Of Permutations 78930
Optimal Distance Threshold 18.0
K Statistic 0.148
p-value 0.688
ClinVar

Number Of Residues 498
Number Of SNVs 37
Number Of Permutations 37976
Optimal Distance Threshold 23.0
K Statistic 0.432
p-value 0.002
COSMIC

Number Of Residues 498
Number Of SNVs 7
Number Of Permutations 2156
Optimal Distance Threshold 6.0
K Statistic 0.048
p-value 0.194

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 133
Number Of ClinVar SNVs 31
Optimal Distance Threshold 23.0
K Statistic 0.175
p-value 0.015
Cosmic vs. ExAC

Number Of ExAC SNVs 133
Number Of COSMIC SNVs 5
Optimal Distance Threshold 34.0
K Statistic -0.314
p-value 0.238

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants

Related Entries
2WTK|STRADA,CAB39,STK11
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2WTK|STRADA,CAB39,STK11