Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient.

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Article

Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient.

The Journal of biological chemistry - 25 Jun 1992

Zhou J, Hertz J M, Leinonen A, Tryggvason K

Abstract excerpt

We have generated and characterized cDNA clones providing the complete amino acid sequence of the human type IV collagen chain whose gene has been shown to be mutated in X chromosome-linked Alport syndrome. The entire translation product has 1,685 amino acid residues. There is a 26-residue signal...

Topics

Adolescent
Adult
Amino Acid Sequence
Base Sequence
Collagen
Cysteine
DNA
DNA Mutational Analysis
Deoxyribonuclease HindIII
Exons
Female
Glycine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Male

Middle Aged

Molecular Sequence Data

Mutation

Nephritis, Hereditary

Source

Open in PubMed

Identifiers

PMID: 1352287

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1352287-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient.PMID 1352287Read ↗

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