4FQN.A | CCM2

General Structure Information

PDB ID 4fqn
HGNC Gene Label(s) CCM2
Structure Name crystal structure of the ccm2 c-terminal harmonin homology domain (hhd)
Resolution 1.9Å
Reference AUTH O.S.FISHER,R.ZHANG,X.LI,J.W.MURPHY,B.DEMELER,T.J.BOGGONTITL STRUCTURAL STUDIES OF CEREBRAL CAVERNOUS MALFORMATIONS 2TITL 2 (CCM2) REVEAL A FOLDED HELICAL DOMAIN AT ITS C-TERMINUS.REF FEBS LETT. V. 587 272 2013REFN ISSN 0014-5793PMID 23266514DOI 10.1016/J.FEBSLET.2012.12.011

Variant Set Distributions

ExAC Variants

Number Of Residues 94
Number Of SNVs 25
Number Of Permutations 1339
Optimal Distance Threshold 6.0
K Statistic 0.03
p-value 0.398

Mapped Variants

[+] ExAC Missense Variants