1J1E.D | TNNC1

General Structure Information

PDB ID 1j1e
HGNC Gene Label(s) TNNC1
Structure Name crystal structure of the 52kda domain of human cardiac troponin in the ca2+ saturated form
Resolution 3.3Å
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 159
Number Of SNVs 24
Number Of Permutations 3812
Optimal Distance Threshold 10.0
K Statistic 0.192
p-value 0.0
ClinVar

Number Of Residues 159
Number Of SNVs 12
Number Of Permutations 1916
Optimal Distance Threshold 9.0
K Statistic 0.03
p-value 0.955
COSMIC

Number Of Residues 159
Number Of SNVs 3
Number Of Permutations 46
Optimal Distance Threshold 11.0
K Statistic 0.333
p-value 0.644

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 24
Number Of ClinVar SNVs 12
Optimal Distance Threshold 10.0
K Statistic -0.131
p-value 0.163
Cosmic vs. ExAC

Pathogenic Proximity Analysis

ClinVar PathProx Analysis
COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants