TPM1 Chromosome 15
Tropomyosin 1
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What This Gene Does
This gene is a member of the tropomyosin family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosin is composed of two alpha-helical chains arranged as a coiled-coil. It is polymerized end to end along the two grooves of actin filaments and provides stability to the filaments. The encoded protein is one type of alpha helical chain that forms the predominant tropomyosin of striated muscle, where it also functions in association with the troponin complex to regulate the calcium-dependent interaction of actin and myosin during muscle contraction. In smooth muscle and non-muscle cells, alternatively spliced transcript variants encoding a range of isoforms have been described. Mutations in this gene are associated with type 3 familial hypertrophic cardiomyopathy and dilated cardiomyopathy 1Y. [provided by RefSeq, Jun 2022]
Gene Info
Gene Group
Tropomyosins
Locus Type
gene with protein product
Location
15q22.2
Ensembl
ENSG00000140416
Associated Conditions (23)
Hypertrophic cardiomyopathy 3
Dilated cardiomyopathy 1Y
Hypertrophic cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy
Primary familial hypertrophic cardiomyopathy
TPM1-related disorder
Primary dilated cardiomyopathy
Uterine corpus endometrial carcinoma
Gastric cancer
Hypertrophic cardiomyopathy 1
Left ventricular noncompaction 9
Hypertrophic cardiomyopathy 21
Long QT syndrome
Paroxysmal familial ventricular fibrillation
See cases
Left ventricular noncompaction cardiomyopathy
Pulmonary atresia with intact ventricular septum
Atrial septal defect 1
Catecholaminergic polymorphic ventricular tachycardia
+3 more conditions
Key Variants
RS1032357917
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3
Health Risk
RS104894505
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy, Cardiovascular phenotype
Health Risk
RS1060501866
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
Health Risk
RS1131003
Conflicting classifications of pathogenicity
Cardiomyopathy, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 3
Health Risk
RS113759732
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype
Health Risk
RS1350935943
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3, Hypertrophic cardiomyopathy
Health Risk
RS139159081
Conflicting classifications of pathogenicity
Cardiomyopathy, Cardiomyopathy
Health Risk
RS141757680
Conflicting classifications of pathogenicity
Primary familial hypertrophic cardiomyopathy, Cardiomyopathy, TPM1-related disorder
Health Risk
RS143922069
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y
Health Risk
RS144451403
Conflicting classifications of pathogenicity
Cardiomyopathy, Cardiomyopathy
Health Risk
RS149659674
Conflicting classifications of pathogenicity
Cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1Y
Health Risk
RS1555408679
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype
Health Risk
All Variants (125)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS562829514 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Cardiomyopathy |
| RS576659891 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3, Hypertrophic cardiomyopathy |
| RS727503517 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy |
| RS727503518 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS727504290 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727504313 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Cardiomyopathy, Dilated cardiomyopathy 1Y |
| RS730881128 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Cardiomyopathy |
| RS730881132 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Cardiomyopathy |
| RS730881134 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS730881136 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS730881140 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS730881141 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Cardiovascular phenotype, Dilated cardiomyopathy 1Y |
| RS730881151 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 3, Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS730881159 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS730881160 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS746952638 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, Cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS749271066 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Cardiomyopathy |
| RS753196985 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y |
| RS757577112 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy |
| RS759081217 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS759481997 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS762282433 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS765721221 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS766724527 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y |
| RS768857765 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS771961466 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy |
| RS772871597 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Cardiomyopathy |
| RS777139450 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy |
| RS786204410 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS786204411 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiomyopathy, Hypertrophic cardiomyopathy |
| RS796682308 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS876661210 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS104894502 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy 3, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS1064793284 | Health Risk | Likely pathogenic | — |
| RS1114167355 | Health Risk | Likely pathogenic | Pulmonary atresia with intact ventricular septum, Pulmonary atresia with intact ventricular septum |
| RS1114167356 | Health Risk | Likely pathogenic | Atrial septal defect 1, Atrial septal defect 1 |
| RS1206044252 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1Y, Dilated cardiomyopathy 1Y |
| RS1555409132 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS1555409659 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS1596303148 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS1596386673 | Health Risk | Likely pathogenic | Cardiomyopathy, Cardiomyopathy |
| RS199476305 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS2031437544 | Health Risk | Likely pathogenic | Cardiomyopathy, TPM1-related disorder, Cardiomyopathy |
| RS2031853048 | Health Risk | Likely pathogenic | — |
| RS2034909771 | Health Risk | Likely pathogenic | — |
| RS2035667597 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2140937964 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2140963813 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1Y, Dilated cardiomyopathy 1Y |
| RS2140969490 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2542431791 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |