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Article

Quantifying the intragenic distribution of human disease mutations.

Annals of human genetics - 1 Nov 2003

Miller M P, Parker J D, Rissing S W, Kumar S

Abstract excerpt

A wide variety of functional domains exist within human genes. Since different domains vary in their roles regarding overall gene function, the ability for a mutation in a gene region to produce disease varies among domains. We tested two hypotheses regarding distributions of mutations among functional domains by using (1) sets of single nucleotide disease mutations for six genes (CFTR, TSC2, G6PD, PAX6, RS1, and...

Topics

Conserved Sequence
Cystic Fibrosis Transmembrane Conductance Regulator
Databases, Genetic
Evolution, Molecular
Eye Proteins
Genetic Diseases, Inborn
Glucosephosphate Dehydrogenase
Homeodomain Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Mutation

Organic Anion Transport Protein 1

PAX6 Transcription Factor

Paired Box Transcription Factors

Phylogeny

Polymorphism, Single Nucleotide

Protein Structure, Tertiary

Repressor Proteins

Tuberous Sclerosis Complex 2 Protein

Source

Identifiers

PMID: 14641244
DOI: 10.1046/j.1529-8817.2003.00072.x

Genes

CFTR
TSC2
PAH
PAX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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