2YRB.A | RPGRIP1L

General Structure Information

PDB ID 2yrb
HGNC Gene Label(s) RPGRIP1L
Structure Name solution structure of the first c2 domain from human kiaa1005 protein
Resolution -1.0Å
Reference AUTH T.NAGASHIMA,F.HAYASHI,S.YOKOYAMATITL SOLUTION STRUCTURE OF THE FIRST C2 DOMAIN FROMTITL 2 HUMAN KIAA1005 PROTEINREF TO BE PUBLISHEDREFN

Variant Set Distributions

ExAC Variants

Number Of Residues 143
Number Of SNVs 40
Number Of Permutations 14331
Optimal Distance Threshold 7.0
K Statistic 0.036
p-value 0.933
ClinVar

Number Of Residues 143
Number Of SNVs 5
Number Of Permutations 1322
Optimal Distance Threshold 13.0
K Statistic 0.1
p-value 1.0

Ripley’s K Analysis Plots

ExACClinVar

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 40
Number Of ClinVar SNVs 5
Optimal Distance Threshold 13.0
K Statistic -0.101
p-value 1.0

Pathogenic Proximity Analysis

ClinVar PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants