Gene Symbol: TPM3
OMIM: 191030Chromosome location: 1q21.3
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | Nemaline myopathy 1 |
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| Dna Change: | c.855delA (913delA) |
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| Protein Change: | p.*286AsnextX73 |
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| Mutation Type: | Deletion |
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| Mutation Effect: | Frameshift |
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| Location: | exon 10 |
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| Transcript: | NM_152263.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Turkey | NA | NA | 4 patients/2 unrelated families | NA | Lehtokari VL et al., 2008Lehtokari VL, Pelin K, Donner K, Voit T, Rudnik-Schöneborn S, Stoetter M, Talim B, Topaloglu H, Laing NG, Wallgren-Pettersson C, . Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin.. Eur. J. Hum. Genet.. 2008; 16(9):1055-61 |
References
Lehtokari VL, Pelin K, Donner K, Voit T, Rudnik-Schöneborn S, Stoetter M, Talim B, Topaloglu H, Laing NG, Wallgren-Pettersson C, Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin.Eur. J. Hum. Genet.. 2008; 16(9):1055-61