Familial amyloidosis classification: Difference between revisions
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==Classification== | ==Classification== | ||
Familial amyloidosis may be [[Classification|classified]] according to the type of [[mutant]] [[protein]] into 7 subtypes:<ref name="Benson2003">{{cite journal|last1=Benson|first1=Merrill D|title=The hereditary amyloidoses|journal=Best Practice & Research Clinical Rheumatology|volume=17|issue=6|year=2003|pages=909–927|issn=15216942|doi=10.1016/j.berh.2003.09.001}}</ref><ref name="Benson20032">{{cite journal|last1=Benson|first1=Merrill D|title=The hereditary amyloidoses|journal=Best Practice & Research Clinical Rheumatology|volume=17|issue=6|year=2003|pages=909–927|issn=15216942|doi=10.1016/j.berh.2003.09.001}}</ref><ref>{{cite book | last = Scriver | first = Charles | title = The metabolic & molecular bases of inherited disease | publisher = McGraw-Hill | location = New York | year = 2001 | isbn = 978-0079130358 }}</ref> | |||
* [[Transthyretin|Transthyretin (TTR)]] | * [[Transthyretin|Transthyretin (TTR)]] | ||
Latest revision as of 16:57, 7 February 2020
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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]
- Transthyretin (TTR)
- Apolipoprotein AI
- Apolipoprotein AII
- Fibrinogen Aa
- Lysozyme
- Gelsolin
- Cystatin C
| 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
- ↑ 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.
- ↑ 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.
- ↑ Scriver, Charles (2001). The metabolic & molecular bases of inherited disease. New York: McGraw-Hill. ISBN 978-0079130358.