1LI1.B | COL4A1

General Structure Information

PDB ID 1li1
HGNC Gene Label(s) COL4A1
Structure Name the 1.9-a crystal structure of the noncollagenous (nc1) domain of human placenta collagen iv shows stabilization via a novel type of covalent met-lys cross-link
Resolution 1.9Å
Reference AUTH M.E.THAN,S.HENRICH,R.HUBER,A.RIES,K.MANN,K.KUHN,AUTH 2 R.TIMPL,G.P.BOURENKOV,H.D.BARTUNIK,W.BODETITL THE 1.9-A CRYSTAL STRUCTURE OF THE NONCOLLAGENOUSTITL 2 (NC1) DOMAIN OF HUMAN PLACENTA COLLAGEN IV SHOWSTITL 3 STABILIZATION VIA A NOVEL TYPE OF COVALENT MET-LYSTITL 4 CROSS-LINK.REF PROC.NATL.ACAD.SCI.USA V. 99 6607 2002REFN ISSN 0027-8424PMID 12011424DOI 10.1073/PNAS.062183499

Variant Set Distributions

ExAC Variants

Number Of Residues 227
Number Of SNVs 48
Number Of Permutations 25731
Optimal Distance Threshold 18.0
K Statistic 0.254
p-value 0.116
COSMIC

Number Of Residues 227
Number Of SNVs 3
Number Of Permutations 46
Optimal Distance Threshold 11.0
K Statistic 0.333
p-value 0.571

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants