2GGZ.A | GUCA1C

General Structure Information

PDB ID 2ggz
HGNC Gene Label(s) GUCA1C
Structure Name crystal structure of human guanylate cyclase activating protein-3
Resolution 3.0Å
Reference AUTH R.STEPHEN,K.PALCZEWSKI,M.C.SOUSATITL THE CRYSTAL STRUCTURE OF GCAP3 SUGGESTS MOLECULARTITL 2 MECHANISM OF GCAP-LINKED CONE DYSTROPHIES.REF J.MOL.BIOL. V. 359 266 2006REFN ISSN 0022-2836PMID 16626734DOI 10.1016/J.JMB.2006.03.042

Variant Set Distributions

ExAC Variants

Number Of Residues 165
Number Of SNVs 45
Number Of Permutations 4934
Optimal Distance Threshold 7.0
K Statistic 0.037
p-value 0.66
COSMIC

Number Of Residues 165
Number Of SNVs 3
Number Of Permutations 108
Optimal Distance Threshold 11.0
K Statistic 0.333
p-value 0.816

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs 45
Number Of COSMIC SNVs 3
Optimal Distance Threshold 25.0
K Statistic -0.376
p-value 0.875

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants