Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964852
rs121964852
TPM3
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.810 GeneticVariation BEFREE We also report a sixth family in which a recurrent TPM3 mutation (p.Arg168His) was associated with histological features of CFTD and nemaline myopathy in different family members. 18300303

2008
dbSNP: rs121964853
rs121964853
TPM3
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.810 GeneticVariation BEFREE We sequenced TPM3 in 23 unrelated probands with CFTD or CFTD-like presentations of unknown cause and identified novel heterozygous missense mutations in five CFTD families (p. Leu100Met, p.Arg168Cys, p.Arg168Gly, p.Lys169Glu, p.Arg245Gly). 18300303

2008
dbSNP: rs121964854
rs121964854
TPM3
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.810 GeneticVariation BEFREE Congenital fiber type disproportion with delayed fiber type maturation and the appearance of cap structures were analyzed in a child with p.Arg168Gly mutation in TPM3 gene. 23924754

2014
dbSNP: rs199474713
rs199474713
TPM3
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.810 GeneticVariation BEFREE The E173A, R90P, and E150A mutations produced abnormally large displacement of tropomyosin to the inner domains of actin and an increase in the number of myosin heads in strong-binding state at low and high Ca<sup>2+</sup>, which is characteristic of CFTD. 30544720

2018
dbSNP: rs80358247
rs80358247
TPM3
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.710 GeneticVariation BEFREE Expression and biological activity of Baculovirus generated wild-type human slow alpha tropomyosin and the Met9Arg mutant responsible for a dominant form of nemaline myopathy. 12163017

2002
dbSNP: rs1051226
rs1051226
TPM3
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.010 GeneticVariation BEFREE Folic acid deficiency, MTHFD1 rs2236225, MTHFR rs1801133, MTRR rs1801349 and RFC1 rs1051226 polymorphisms may be maternal risk factors of NTDs. 30867013

2019
dbSNP: rs121964852
rs121964852
TPM3
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.010 GeneticVariation BEFREE We also report a sixth family in which a recurrent TPM3 mutation (p.Arg168His) was associated with histological features of CFTD and nemaline myopathy in different family members. 18300303

2008
dbSNP: rs1468885028
rs1468885028
TPM3
CUI: C3710589
Disease: Cap Myopathy
Cap Myopathy 		0.010 GeneticVariation BEFREE Here, we report on the first autosomal dominant family with cap myopathy in three-generations, caused by a novel heterozygous mutation in the alpha-tropomyosin-slow-encoding gene (TPM3; exon 4; c.445C>A; p.Leu149Ile). 24239060

2014
dbSNP: rs199474714
rs199474714
TPM3
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.010 GeneticVariation BEFREE It is suggested that direct binding of myosin to Tpm may be one оf the reasons for muscle weakness associated with the A155T mutation. 31155291

2019
dbSNP: rs199474714
rs199474714
TPM3
CUI: C0030552
Disease: Paresis
Paresis 		0.010 GeneticVariation BEFREE It is suggested that direct binding of myosin to Tpm may be one оf the reasons for muscle weakness associated with the A155T mutation. 31155291

2019
dbSNP: rs199474714
rs199474714
TPM3
CUI: C3710589
Disease: Cap Myopathy
Cap Myopathy 		0.010 GeneticVariation BEFREE On the contrary, the A155T mutation caused a decrease in the amount of such heads at high Ca<sup>2+</sup> which is typical for mutations associated with Cap. 30544720

2018
dbSNP: rs199474714
rs199474714
TPM3
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.010 GeneticVariation BEFREE We report on the clinical, myopathological and muscle MRI findings in a German family with autosomal dominant NM due to a novel pathogenic TPM3 mutation (p.Ala156Thr). 20012312

2010
dbSNP: rs772816537
rs772816537
TPM3
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.010 GeneticVariation BEFREE Hence, we recorded and analyzed the X-ray diffraction patterns of human membrane-permeabilized muscle cells expressing a particular beta-tropomyosin mutation (R133W) associated with a loss in cell force production, in vivo muscle weakness, and distal arthrogryposis. 20457903

2010
dbSNP: rs772816537
rs772816537
TPM3
CUI: C0030552
Disease: Paresis
Paresis 		0.010 GeneticVariation BEFREE Hence, we recorded and analyzed the X-ray diffraction patterns of human membrane-permeabilized muscle cells expressing a particular beta-tropomyosin mutation (R133W) associated with a loss in cell force production, in vivo muscle weakness, and distal arthrogryposis. 20457903

2010
dbSNP: rs772816537
rs772816537
TPM3
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome 		0.010 GeneticVariation BEFREE Hence, we recorded and analyzed the X-ray diffraction patterns of human membrane-permeabilized muscle cells expressing a particular beta-tropomyosin mutation (R133W) associated with a loss in cell force production, in vivo muscle weakness, and distal arthrogryposis. 20457903

2010
dbSNP: rs80358247
rs80358247
TPM3
CUI: C0751656
Disease: Nemaline Myopathy, Autosomal Dominant
Nemaline Myopathy, Autosomal Dominant 		0.010 GeneticVariation BEFREE We have previously reported a Met9Arg mutation in the human skeletal muscle alpha tropomyosin gene (TPM3) associated with autosomal dominant nemaline myopathy [Nat.Genet.9 (1995) 75]. 12163017

2002