Familial amyloidosis classification

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Fahimeh Shojaei, M.D.

Overview

Familiar amyloidosis may be classified according to the type of mutant protein into 7 subtypes: Transthyretin (TTR), apolipoprotein AI, cystatin C, lysozyme, fibrinogen A alpha-chain, gelsolin, and apolipoprotein AII.

Classification

Familial amyloidosis may be classified according to the type of mutant protein into 7 subtypes:[1][2][3]


 
 
 
 
 
 
 
 
 
 
 
 
 
Genes involved in familial amyloidosis
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Transthyretin (TTR)
 
Apolipoprotein AI
 
Gelsolin
 
Lysozyme
 
Cystatin C
 
Fibrinogen Aa-chain
 
Apolipoprotein AII
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Mutations:
• Asp18Glu
• Leu55Gln
• Asp18Gly
• His56Arg
• Asp18Asn
• Leu58His
• Val20Ile
• Leu58Arg
• Ser23Asn
• Thr59Lys
• Pro24Ser
• Thr60Ala
• Ala25Ser
• Glu61Lys
• Ala25Thr
 
Mutations:
• Gly26Arg
• Leu60Arg
• Trp50Arg
• del60-71
• del70-72
• Leu75Pro
• Leu90Pro
• Arg173Pro
• Leu174Ser
• Leu178His
 
Mutations:
•Asp187Asn
•Asp187Tyr
 
Mutations:
• Ile56Thr
• Asp67His
• Trp64Arg
• Phe57Ile
 
Mutation:
• Leu68Gln
 
Mutations:
• Arg554Leu
• Glu526Val
• 4904delG
• 4897delT
 
Mutations:
• stop78Gly
• stop78Ser
• stop78Arg
 

• Cys10Arg
• Leu55Pro
• Leu12Pro
• Leu55Arg
• Phe64Leu
• Val28Met
• Phe64Ser
• Val30Met
• Ile68Leu
• Val30Ala
• Tyr69His
• Val30Leu
• Tyr69Ile
• Val30Gly
• Lys70Asn
• Phe33Ile
• Val71Ala
• Phe33Leu
• Ile73Val
• Phe33Val
• Ser77Tyr
• Phe33Cys
• Ser77Phe
• Arg34Thr
• Tyr78Phe
• Lys35Asn
• Ala81Thr
• Ala36Pro
• Ile84Ser
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 

References

  1. Benson, Merrill D (2003). "The hereditary amyloidoses". Best Practice & Research Clinical Rheumatology. 17 (6): 909–927. doi:10.1016/j.berh.2003.09.001. ISSN 1521-6942.
  2. Benson, Merrill D (2003). "The hereditary amyloidoses". Best Practice & Research Clinical Rheumatology. 17 (6): 909–927. doi:10.1016/j.berh.2003.09.001. ISSN 1521-6942.
  3. Scriver, Charles (2001). The metabolic & molecular bases of inherited disease. New York: McGraw-Hill. ISBN 978-0079130358.

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