Title : Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type.

Pub. Date : 1990 Dec 15

PMID : 2176481






1 Functional Relationships(s)
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1 Sequence analysis shows that, in both cases, the amyloid subunit starts at position 173 of the mature molecule; it has a heterogeneous N-terminus and contains one amino acid substitution, namely asparagine for aspartic acid, at position 15 (gelsolin residue 187), that is due to a guanine-to-adenine transversion corresponding to nucleotide-654 of human plasma gelsolin cDNA. Adenine gelsolin Homo sapiens