2UUR.A | COL9A1

General Structure Information

PDB ID 2uur
HGNC Gene Label(s) COL9A1
Structure Name n-terminal nc4 domain of collagen ix
Resolution 1.8Å
Reference AUTH V.-M.LEPPANEN,H.TOSSAVAINEN,P.PERMI,L.LEHTIO,AUTH 2 G.RONNHOLM,A.GOLDMAN,I.KILPELAINEN,T.PIHLAJAMAATITL CRYSTAL STRUCTURE OF THE N-TERMINAL NC4 DOMAIN OFTITL 2 COLLAGEN IX, A ZINC BINDING MEMBER OF THE LAMININ-TITL 3 NEUREXIN-SEX HORMONE BINDING GLOBULIN (LNS) DOMAINTITL 4 FAMILY.REF J.BIOL.CHEM. V. 282 23219 2007REFN ISSN 0021-9258PMID 17553797DOI 10.1074/JBC.M702514200

Variant Set Distributions

ExAC Variants

Number Of Residues 210
Number Of SNVs 65
Number Of Permutations 5858
Optimal Distance Threshold 14.0
K Statistic 0.205
p-value 0.729
COSMIC

Number Of Residues 210
Number Of SNVs 5
Number Of Permutations 751
Optimal Distance Threshold 6.0
K Statistic 0.1
p-value 0.602

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs 65
Number Of COSMIC SNVs 4
Optimal Distance Threshold 6.0
K Statistic 0.146
p-value 0.487

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants