GeneBe

TNNI1

troponin I1, slow skeletal type, the group of Troponin complex subunits

Basic information

Region (hg38): 1:201403784-201429866

Links

ENSG00000159173 ∙ NCBI:7135 ∙ OMIM:191042 ∙ HGNC:11945 ∙ Uniprot:P19237 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TNNI1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TNNI1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
0
missense
10
clinvar
 10
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 10 0 0

Variants in TNNI1

This is a list of pathogenic ClinVar variants found in the TNNI1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
1-201410344-G-C not specified Uncertain significance (Sep 20, 2023)3180525
1-201410351-C-T not specified Uncertain significance (Oct 05, 2023)3180524
1-201411409-G-C not specified Uncertain significance (Mar 31, 2024)3327648
1-201411452-C-A not specified Uncertain significance (Jan 23, 2024)3180523
1-201411485-G-A not specified Uncertain significance (Dec 19, 2023)3180522
1-201411500-G-A not specified Uncertain significance (Nov 02, 2023)3180521
1-201413063-A-G not specified Uncertain significance (Mar 29, 2022)2280099
1-201414564-C-T not specified Uncertain significance (Aug 17, 2022)2394984
1-201414565-G-A not specified Uncertain significance (Oct 18, 2021)2251409
1-201415230-G-A TNNI1-related congenital myopathy Uncertain significance (-)2498345
1-201417118-C-T not specified Uncertain significance (Nov 17, 2022)2217135
1-201417789-G-A not specified Uncertain significance (Mar 20, 2024)3327647

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
TNNI1protein_codingprotein_codingENST00000361379 725370
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.00007020.7531257370111257480.0000437
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.65741260.5870.000008771208
Missense in Polyphen2555.2410.45256569
Synonymous0.9923947.70.8170.00000305374
Loss of Function1.07812.00.6666.55e-7140

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00005800.0000580
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00005390.0000527
Middle Eastern0.000.00
South Asian0.00003270.0000327
Other0.0003280.000326

dbNSFP

Source: dbNSFP

Function
FUNCTION: Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.;
Pathway
Disopyramide Action Pathway;Procainamide (Antiarrhythmic) Action Pathway;Phenytoin (Antiarrhythmic) Action Pathway;Fosphenytoin (Antiarrhythmic) Action Pathway;Bopindolol Action Pathway;Timolol Action Pathway;Carteolol Action Pathway;Bevantolol Action Pathway;Practolol Action Pathway;Dobutamine Action Pathway;Isoprenaline Action Pathway;Arbutamine Action Pathway;Amiodarone Action Pathway;Levobunolol Action Pathway;Metipranolol Action Pathway;Mexiletine Action Pathway;Lidocaine (Antiarrhythmic) Action Pathway;Quinidine Action Pathway;Sotalol Action Pathway;Epinephrine Action Pathway;Betaxolol Action Pathway;Atenolol Action Pathway;Alprenolol Action Pathway;Acebutolol Action Pathway;Muscle/Heart Contraction;Diltiazem Action Pathway;Propranolol Action Pathway;Pindolol Action Pathway;Penbutolol Action Pathway;Oxprenolol Action Pathway;Metoprolol Action Pathway;Esmolol Action Pathway;Bisoprolol Action Pathway;Bupranolol Action Pathway;Nebivolol Action Pathway;Amlodipine Action Pathway;Verapamil Action Pathway;Nitrendipine Action Pathway;Nisoldipine Action Pathway;Nimodipine Action Pathway;Ibutilide Action Pathway;Tocainide Action Pathway;Flecainide Action Pathway;Isradipine Action Pathway;Nifedipine Action Pathway;Felodipine Action Pathway;Nadolol Action Pathway;Carvedilol Action Pathway;Labetalol Action Pathway;Striated Muscle Contraction;actions of nitric oxide in the heart;Striated Muscle Contraction;Muscle contraction (Consensus)

Recessive Scores

pRec
0.192

Intolerance Scores

loftool
0.288
rvis_EVS
0.24
rvis_percentile_EVS
68.98

Haploinsufficiency Scores

pHI
0.185
hipred
Y
hipred_score
0.666
ghis
0.416

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.879

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Tnni1
Phenotype

Zebrafish Information Network

Gene name
tnni1b
Affected structure
atrium
Phenotype tag
abnormal
Phenotype quality
morphology

Gene ontology

Biological process
muscle contraction;regulation of striated muscle contraction;transition between fast and slow fiber;muscle filament sliding;ventricular cardiac muscle tissue morphogenesis
Cellular component
cytosol;troponin complex
Molecular function
actin binding;protein binding;metal ion binding