Mutations in Hereditary Amyloidosis


APOA1 Mutation Form
* Full Name:		Examples:
* Email Address:
* Protein Variant:		Phe71Tyr (p.Phe95Tyr)
* Sequence Variant (cDNA):		c.284T>A
* Codon Change:		TTC>TAC
* Location:		Exon 4
* Reported Phenotype:		Palatal mass, normal organ function
* Ethnic Group:		British
* Histological confirmation of amyloid by Congo red:	Yes No
If Yes specify the tissue:
* Confirmation of fibril type:	Yes No
If Yes which method:	Immunohistochemistry LMD/MS
	Other
References: