FUNPEP: Information system for "low complexity sequence regions".

Copyright (C) 1999, FUNPEP.

Apolipoprotein A-I

Apolipoprotein A-I (apoA-I) is the major protein component of high density lipoproteins (HDL). ApoA-I has several functions: Hereditary non-neuropathic systeic amyloidosis (Ostertag-type) is rare autosomal disease in which amyloid deposition in the viscera is usually fatal by the fifth decade. In some families it is caused by the mutations of apoA-I, but in other families lysozyme is the amyloid fibril protein. ApoA-I has four amyloidogenic variants:
Mutation Exon Fragment Clinical symptoms
Gly26Arg 3 1-83 Neuropathy, nephropathy, peptic ulcer, low HDL, low apoA-I
Trp50Arg 4 1-86, 1-92, 1-93 Non-neuropathy amyloidosis, renal failure
Leu60Arg 4 1-88, 1-92, 1-93, 1-94 Non-neuropathy amyloidosis, renal failure
(60-71)ValThr 4 1-83, 1-92 Non-neuropathy amyloidosis, liver failure, low HDL, low apoA-I

Our SWISSPROT sequences are here, the result of the multiple sequence alignment is here.


Gergo Kiss 30th March 1999 EMBL/Szeged