1J1D.F | TNNI3

General Structure Information

PDB ID 1j1d
HGNC Gene Label(s) TNNI3
Structure Name crystal structure of the 46kda domain of human cardiac troponin in the ca2+ saturated form
Resolution 2.61Å
Reference AUTH S.TAKEDA,A.YAMASHITA,K.MAEDA,Y.MAEDATITL STRUCTURE OF THE CORE DOMAIN OF HUMAN CARDIACTITL 2 TROPONIN IN THE CA2+-SATURATED FORMREF NATURE V. 424 35 2003REFN ISSN 0028-0836PMID 12840750DOI 10.1038/NATURE01780

Variant Set Distributions

ExAC Variants

Number Of Residues 116
Number Of SNVs 27
Number Of Permutations 9184
Optimal Distance Threshold 19.0
K Statistic 0.262
p-value 0.178
ClinVar

Number Of Residues 116
Number Of SNVs 13
Number Of Permutations 4467
Optimal Distance Threshold 31.0
K Statistic 0.295
p-value 0.43

Ripley’s K Analysis Plots

ExACClinVar

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 27
Number Of ClinVar SNVs 8
Optimal Distance Threshold 6.0
K Statistic 0.043
p-value 0.596

Pathogenic Proximity Analysis

ClinVar PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants