3LBX.B | SPTB

General Structure Information

PDB ID 3lbx
HGNC Gene Label(s) SPTB
Structure Name crystal structure of the erythrocyte spectrin tetramerization domain complex
Resolution 2.8Å
Reference AUTH J.J.IPSARO,S.L.HARPER,T.E.MESSICK,R.MARMORSTEIN,A.MONDRAGON,AUTH 2 D.W.SPEICHERTITL CRYSTAL STRUCTURE AND FUNCTIONAL INTERPRETATION OF THETITL 2 ERYTHROCYTE SPECTRIN TETRAMERIZATION DOMAIN COMPLEX.REF BLOOD V. 115 4843 2010REFN ISSN 0006-4971PMID 20197550DOI 10.1182/BLOOD-2010-01-261396

Variant Set Distributions

ExAC Variants

Number Of Residues 180
Number Of SNVs 50
Number Of Permutations 51088
Optimal Distance Threshold 18.0
K Statistic 0.264
p-value 0.468
ClinVar

Number Of Residues 180
Number Of SNVs 5
Number Of Permutations 3701
Optimal Distance Threshold 13.0
K Statistic 0.6
p-value 0.01

Ripley’s K Analysis Plots

ExACClinVar

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 50
Number Of ClinVar SNVs 5
Optimal Distance Threshold 13.0
K Statistic 0.464
p-value 0.012

Pathogenic Proximity Analysis

ClinVar PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants