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Article

A new transthyretin variant from a patient with familial amyloidotic polyneuropathy has asparagine substituted for histidine at position 90.

Clinical genetics - 1 Jan 1991

Skare J C, Milunsky J M, Milunsky A, Skare I B, Cohen A S, Skinner M

Abstract excerpt

A new transthyretin variant which lost an Sph I cleavage site within exon 3 has been characterized. A 260 bp sequence containing exon 3 was amplified using the polymerase chain reaction, and the variant was found to possess a Bsm I cleavage site not present in normal transthyretin. This led to the conclusion that the histidine at position 90 was replaced by asparagine, and amino acid analysis supported the...

Topics

Amino Acid Sequence
Amyloidosis
Asparagine
Base Sequence
Female
Hereditary Sensory and Autonomic Neuropathies
Histidine
Humans
Ion Exchange
Molecular Sequence Data
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymerase Chain Reaction

Prealbumin

Source

Identifiers

PMID: 1997217
DOI: 10.1111/j.1399-0004.1991.tb02979.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1997217-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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A new transthyretin variant from a patient with familial amyloidotic polyneuropathy has asparagine substituted for histidine at position 90.PMID 1997217Read ↗

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