3TH4.H | F7

General Structure Information

PDB ID 3th4
HGNC Gene Label(s) F7
Structure Name mg2+ is required for optimal folding of the gamma-carboxyglutamic acid (gla) domains of vitamin k-dependent clotting factors at physiological ca2+
Resolution 1.8Å
Reference AUTH K.VADIVEL,S.AGAH,A.MESSER,D.CASCIO,S.M.BAJAJ,S.KRISHNASWAMY,AUTH 2 C.T.ESMON,K.PADMANABHAN,S.P.BAJAJTITL MG2+ IS REQUIRED FOR OPTIMAL FOLDING OF THETITL 2 GAMMA-CARBOXYGLUTAMIC ACID (GLA) DOMAINS OF VITAMINTITL 3 K-DEPENDENT CLOTTING FACTORS AT PHYSIOLOGICAL CA2+REF TO BE PUBLISHEDREFN

Variant Set Distributions

ExAC Variants

Number Of Residues 231
Number Of SNVs 81
Number Of Permutations 26017
Optimal Distance Threshold 8.0
K Statistic 0.034
p-value 0.045
ClinVar

Number Of Residues 231
Number Of SNVs 5
Number Of Permutations 329
Optimal Distance Threshold 10.0
K Statistic 0.2
p-value 0.588
COSMIC

Number Of Residues 231
Number Of SNVs 7
Number Of Permutations 424
Optimal Distance Threshold 14.0
K Statistic 0.048
p-value 0.476

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 81
Number Of ClinVar SNVs 5
Optimal Distance Threshold 10.0
K Statistic 0.131
p-value 0.503
Cosmic vs. ExAC

Number Of ExAC SNVs 81
Number Of COSMIC SNVs 6
Optimal Distance Threshold 13.0
K Statistic -0.14
p-value 0.477

Pathogenic Proximity Analysis

ClinVar PathProx Analysis
COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants