2LLY.A | CHRNA4

General Structure Information

PDB ID 2lly
HGNC Gene Label(s) CHRNA4
Structure Name nmr structures of the transmembrane domains of the nachr a4 subunit
Resolution -1.0Å
Reference AUTH V.BONDARENKO,D.MOWREY,T.TILLMAN,T.CUI,L.T.LIU,Y.XU,P.TANGTITL NMR STRUCTURES OF THE TRANSMEMBRANE DOMAINS OF THE A4B2TITL 2 NACHR.REF BIOCHIM.BIOPHYS.ACTA V.1818 1261 2012REFN ISSN 0006-3002PMID 22361591DOI 10.1016/J.BBAMEM.2012.02.008

Variant Set Distributions

ExAC Variants

Number Of Residues 134
Number Of SNVs 43
Number Of Permutations 23176
Optimal Distance Threshold 9.0
K Statistic 0.054
p-value 0.112
ClinVar

Number Of Residues 134
Number Of SNVs 4
Number Of Permutations 921
Optimal Distance Threshold 8.0
K Statistic 0.167
p-value 0.637
COSMIC

Number Of Residues 134
Number Of SNVs 6
Number Of Permutations 3329
Optimal Distance Threshold 15.0
K Statistic 0.133
p-value 0.813

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 43
Number Of ClinVar SNVs 4
Optimal Distance Threshold 8.0
K Statistic 0.119
p-value 0.451
Cosmic vs. ExAC

Number Of ExAC SNVs 43
Number Of COSMIC SNVs 6
Optimal Distance Threshold 29.0
K Statistic -0.253
p-value 0.7

Pathogenic Proximity Analysis

ClinVar PathProx Analysis
COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants