OMIM: 105210Inheritance: Autosomal dominant
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | TTR |
|---|
| Dna Change: | |
|---|
| Protein Change: | p.Val30Met |
|---|
| Mutation Type: | Substitution |
|---|
| Mutation Effect: | Missense |
|---|
| Location: | |
|---|
| Transcript: | NM_000371.3 |
|---|
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| 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