TPM3 Chromosome 1
Tropomyosin 3
Upload your DNA to see your personal genotypes for variants in TPM3.
What This Gene Does
This gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other actin-binding proteins. Mutations in this gene result in autosomal dominant nemaline myopathy and other muscle disorders. This locus is involved in translocations with other loci, including anaplastic lymphoma receptor tyrosine kinase (ALK) and neurotrophic tyrosine kinase receptor type 1 (NTRK1), which result in the formation of fusion proteins that act as oncogenes. There are numerous pseudogenes for this gene on different chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Gene Info
Gene Group
Tropomyosins
Locus Type
gene with protein product
Location
1q21.3
Ensembl
ENSG00000143549
Associated Conditions (12)
Congenital myopathy with fiber type disproportion
Congenital myopathy 4B
autosomal recessive
TPM3-related myopathy
Centronuclear myopathy
Congenital myopathy 4A
autosomal dominant
Myopathy
See cases
TPM3-related core myopathy
Inborn genetic diseases
Nemaline myopathy
Key Variants
RS144482403
Conflicting classifications of pathogenicity
Congenital myopathy with fiber type disproportion, Congenital myopathy 4B, autosomal recessive
Health Risk
RS149765446
Conflicting classifications of pathogenicity
Congenital myopathy with fiber type disproportion, Congenital myopathy 4B, autosomal recessive
Health Risk
RS367548433
Conflicting classifications of pathogenicity
Congenital myopathy with fiber type disproportion, Congenital myopathy 4B, autosomal recessive
Health Risk
RS529845435
Conflicting classifications of pathogenicity
Congenital myopathy with fiber type disproportion, Congenital myopathy 4B, autosomal recessive
Health Risk
RS535068015
Conflicting classifications of pathogenicity
Congenital myopathy 4B, autosomal recessive, Congenital myopathy with fiber type disproportion
Health Risk
RS550606876
Conflicting classifications of pathogenicity
Congenital myopathy with fiber type disproportion, Congenital myopathy 4B, autosomal recessive
Health Risk
RS557217738
Conflicting classifications of pathogenicity
Congenital myopathy with fiber type disproportion, Congenital myopathy 4B, autosomal recessive
Health Risk
RS564296987
Conflicting classifications of pathogenicity
Congenital myopathy 4B, autosomal recessive, Congenital myopathy with fiber type disproportion
Health Risk
RS727504181
Conflicting classifications of pathogenicity
Congenital myopathy 4B, autosomal recessive, Congenital myopathy with fiber type disproportion
Health Risk
RS749792884
Conflicting classifications of pathogenicity
Congenital myopathy 4B, autosomal recessive, Congenital myopathy with fiber type disproportion
Health Risk
RS750152844
Conflicting classifications of pathogenicity
Congenital myopathy 4B, autosomal recessive, Congenital myopathy with fiber type disproportion
Health Risk
RS762511246
Conflicting classifications of pathogenicity
Congenital myopathy 4B, autosomal recessive, Congenital myopathy with fiber type disproportion
Health Risk
All Variants (40)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144482403 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with fiber type disproportion, Congenital myopathy 4B, autosomal recessive |
| RS149765446 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with fiber type disproportion, Congenital myopathy 4B, autosomal recessive |
| RS367548433 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with fiber type disproportion, Congenital myopathy 4B, autosomal recessive |
| RS529845435 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with fiber type disproportion, Congenital myopathy 4B, autosomal recessive |
| RS535068015 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy 4B, autosomal recessive, Congenital myopathy with fiber type disproportion |
| RS550606876 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with fiber type disproportion, Congenital myopathy 4B, autosomal recessive |
| RS557217738 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with fiber type disproportion, Congenital myopathy 4B, autosomal recessive |
| RS564296987 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy 4B, autosomal recessive, Congenital myopathy with fiber type disproportion |
| RS727504181 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy 4B, autosomal recessive, Congenital myopathy with fiber type disproportion |
| RS749792884 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy 4B, autosomal recessive, Congenital myopathy with fiber type disproportion |
| RS750152844 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy 4B, autosomal recessive, Congenital myopathy with fiber type disproportion |
| RS762511246 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy 4B, autosomal recessive, Congenital myopathy with fiber type disproportion |
| RS764255899 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with fiber type disproportion, Congenital myopathy 4B, autosomal recessive |
| RS769493959 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy 4B, autosomal recessive, Congenital myopathy with fiber type disproportion |
| RS781032589 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with fiber type disproportion, Congenital myopathy 4B, autosomal recessive |
| RS121964853 | Health Risk | Likely pathogenic | Congenital myopathy with fiber type disproportion, Congenital myopathy 4A, autosomal dominant |
| RS1553251644 | Health Risk | Likely pathogenic | Congenital myopathy with fiber type disproportion, Congenital myopathy 4B, autosomal recessive |
| RS1571418855 | Health Risk | Likely pathogenic | Congenital myopathy 4B, autosomal recessive, Congenital myopathy with fiber type disproportion |
| RS1571456678 | Health Risk | Likely pathogenic | Congenital myopathy 4B, autosomal recessive, Congenital myopathy 4B |
| RS199474713 | Health Risk | Likely pathogenic | Congenital myopathy with fiber type disproportion, Congenital myopathy 4B, autosomal recessive |
| RS199474720 | Health Risk | Likely pathogenic | Congenital myopathy 4B, autosomal recessive, Congenital myopathy with fiber type disproportion |
| RS2148294647 | Health Risk | Likely pathogenic | Congenital myopathy with fiber type disproportion, Congenital myopathy 4B, autosomal recessive |
| RS2148295444 | Health Risk | Likely pathogenic | Congenital myopathy 4B, autosomal recessive, Congenital myopathy with fiber type disproportion |
| RS2526035615 | Health Risk | Likely pathogenic | Congenital myopathy with fiber type disproportion, Congenital myopathy with fiber type disproportion |
| RS2526055328 | Health Risk | Likely pathogenic | Congenital myopathy 4B, autosomal recessive, Congenital myopathy with fiber type disproportion |
| RS2526060945 | Health Risk | Likely pathogenic | — |
| RS797046047 | Health Risk | Likely pathogenic | Myopathy, Myopathy |
| RS876661407 | Health Risk | Likely pathogenic | Congenital myopathy 4A, autosomal dominant, Congenital myopathy 4A |
| RS121964852 | Health Risk | Pathogenic | Congenital myopathy 4B, autosomal recessive, Congenital myopathy 4A |
| RS121964854 | Health Risk | Pathogenic | Congenital myopathy with fiber type disproportion, Congenital myopathy 4B, autosomal recessive |
| RS1553248515 | Health Risk | Pathogenic | Congenital myopathy 4B, autosomal recessive, Congenital myopathy with fiber type disproportion |
| RS199474719 | Health Risk | Pathogenic | Congenital myopathy 4B, autosomal recessive, Congenital myopathy 4B |
| RS2148295371 | Health Risk | Pathogenic | Congenital myopathy with fiber type disproportion, Congenital myopathy 4B, autosomal recessive |
| RS2526038482 | Health Risk | Pathogenic | Congenital myopathy 4B, autosomal recessive, Congenital myopathy with fiber type disproportion |
| RS2526038543 | Health Risk | Pathogenic | Congenital myopathy 4A, autosomal dominant, Congenital myopathy 4A |
| RS80358247 | Health Risk | Pathogenic | Congenital myopathy 4B, autosomal recessive, Congenital myopathy 4A |
| RS80358248 | Health Risk | Pathogenic | Congenital myopathy 4B, autosomal recessive, Congenital myopathy with fiber type disproportion |
| RS876661406 | Health Risk | Pathogenic | Congenital myopathy 4A, autosomal dominant, Congenital myopathy 4A |
| RS1553249076 | Health Risk | Pathogenic/Likely pathogenic | Congenital myopathy 4B, autosomal recessive, Congenital myopathy with fiber type disproportion |
| RS2526056353 | Health Risk | Pathogenic/Likely pathogenic | Congenital myopathy with fiber type disproportion, Congenital myopathy 4B, autosomal recessive |