2KSR.A | CHRNB2

General Structure Information

PDB ID 2ksr
HGNC Gene Label(s) CHRNB2
Structure Name nmr structures of tm domain of the n-acetylcholine receptor b2 subunit
Resolution -1.0Å
Reference AUTH V.BONDARENKO,T.TILLMAN,Y.XU,P.TANGTITL NMR STRUCTURE OF THE TRANSMEMBRANE DOMAIN OF THETITL 2 N-ACETYLCHOLINE RECEPTOR BETA2 SUBUNIT.REF BIOCHIM.BIOPHYS.ACTA V.1798 1608 2010REFN ISSN 0006-3002PMID 20441771DOI 10.1016/J.BBAMEM.2010.04.014

Variant Set Distributions

ExAC Variants

Number Of Residues 140
Number Of SNVs 29
Number Of Permutations 4691
Optimal Distance Threshold 8.0
K Statistic 0.064
p-value 0.942
ClinVar

Number Of Residues 140
Number Of SNVs 4
Number Of Permutations 405
Optimal Distance Threshold 11.0
K Statistic 0.333
p-value 0.27
COSMIC

Number Of Residues 140
Number Of SNVs 4
Number Of Permutations 1030
Optimal Distance Threshold 17.0
K Statistic 0.5
p-value 0.673

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 29
Number Of ClinVar SNVs 4
Optimal Distance Threshold 11.0
K Statistic 0.208
p-value 0.307
Cosmic vs. ExAC

Number Of ExAC SNVs 29
Number Of COSMIC SNVs 4
Optimal Distance Threshold 12.0
K Statistic -0.155
p-value 0.957

Pathogenic Proximity Analysis

ClinVar PathProx Analysis
COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants