4AEJ.B | COL3A1

General Structure Information

PDB ID 4aej
HGNC Gene Label(s) COL3A1
Structure Name crystal structure of human fibrillar procollagen type iii c- propeptide trimer
Resolution 2.21Å
Reference AUTH J.M.BOURHIS,N.MARIANO,Y.ZHAO,K.HARLOS,J.EXPOSITO,E.Y.JONES,AUTH 2 C.MOALI,N.AGHAJARI,D.J.S.HULMESTITL STRUCTURAL BASIS OF FIBRILLAR COLLAGEN TRIMERIZATION ANDTITL 2 RELATED GENETIC DISORDERS.REF NAT.STRUCT.MOL.BIOL. V. 19 1031 2012REFN ISSN 1545-9993PMID 23001006DOI 10.1038/NSMB.2389

Variant Set Distributions

ExAC Variants

Number Of Residues 214
Number Of SNVs 49
Number Of Permutations 8209
Optimal Distance Threshold 6.0
K Statistic 0.014
p-value 0.288
COSMIC

Number Of Residues 214
Number Of SNVs 3
Number Of Permutations 108
Optimal Distance Threshold 6.0
K Statistic 0.333
p-value 0.152

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs 49
Number Of COSMIC SNVs 5
Optimal Distance Threshold 6.0
K Statistic 0.086
p-value 0.219

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants