TTR FGA APOA1 APOA2 LYZ GSN B2M Cystatin Home Back

 
Cystatin 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  

  If Yes specify the tissue:

 

* Confirmation of fibril type:

Yes  

If Yes which method:

Immunohistochemistry LMD/MS

 
  Other  
References: