From: A novel TTR mutation (p.Ala65Val) underlying late-onset hereditary transthyretin (ATTRv) amyloidosis with mixed cardiac and neuropathic phenotype: a case report
Mutation on c.DNA level
Wildtype sequence
GAG CCA TTT GCC TCT GGG AAA
Mutated sequence
GAG CCA TTT GTC TCT GGG AAA
Mutation on amino acid level
Glu Pro Phe Ala Ser Gly Lys
Glu Pro Phe Val Ser Gly Lys