4IHB.F | DYSF

General Structure Information

PDB ID 4ihb
HGNC Gene Label(s) DYSF
Structure Name x-ray structure of the canonical c2a domain from human dysferlin
Resolution 2.04Å
Reference AUTH K.FUSON,A.RICE,R.MAHLING,A.SNOW,K.NAYAK,P.SHANBHOGUE,AUTH 2 A.G.MEYER,G.M.REDPATH,A.HINDERLITER,S.T.COOPER,R.B.SUTTONTITL ALTERNATE SPLICING OF DYSFERLIN C2A CONFERS CA(2+)-DEPENDENTTITL 2 AND CA(2+)-INDEPENDENT BINDING FOR MEMBRANE REPAIR.REF STRUCTURE V. 22 104 2014REFN ISSN 0969-2126PMID 24239457DOI 10.1016/J.STR.2013.10.001

Variant Set Distributions

ExAC Variants

Number Of Residues 124
Number Of SNVs 37
Number Of Permutations 11989
Optimal Distance Threshold 9.0
K Statistic 0.078
p-value 0.161

Mapped Variants

[+] ExAC Missense Variants