Gene Symbol: TTR
OMIM: 176300Chromosome location: 18q12.1
Related informations:  
NCBI Gene  
Genome Browser  
Ensembl  
UniProt  
GeneCards  
Kyoto Encyclopedia  
BioGPS  
HGNC  
HPRD  
Phenotype: |    Amyloidosis, hereditary, transthyretin-related |
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Dna Change: |    |
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Protein Change: |    p.Val30Met |
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Mutation Type: |    Substitution |
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Mutation Effect: |    Missense |
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Location: |    |
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Transcript: |    NM_000371.3 |
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Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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Italy | NA | NA | NA | 34-36 generations ago | Iorio A et al., 2014Iorio A, De Angelis F, Di Girolamo M, Luigetti M, Pradotto L, Mauro A, Manfellotto D, Fuciarelli M, Polimanti R, . Most recent common ancestor of TTR Val30Met mutation in Italian population and its potential role in genotype-phenotype correlation.. Amyloid. 2014; 0(0):1-6 |
References
Iorio A, De Angelis F, Di Girolamo M, Luigetti M, Pradotto L, Mauro A, Manfellotto D, Fuciarelli M, Polimanti R, Most recent common ancestor of TTR Val30Met mutation in Italian population and its potential role in genotype-phenotype correlation.Amyloid. 2014; 0(0):1-6