Phenotype: Amyloidosis, hereditary, transthyretin-related


OMIM: 105210
Inheritance: Autosomal dominant
Classification: Endocrine, nutritional and metabolic disease

Related informations: Orphanet    Gene Tests    Clinical Synopsis    Clinical Trials

TTR ||

Gene/Locus:    TTR
Dna Change:   
Protein Change:    p.Val30Met
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:   
Transcript:    NM_000371.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANANA34-36 generations agoIorio 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