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Article

Phenotype-genotype correlation in Hirschsprung disease is illuminated by comparative analysis of the RET protein sequence.

Proceedings of the National Academy of Sciences of the United States of America - 21 Jun 2005

Kashuk Carl S, Stone Eric A, Grice Elizabeth A, Portnoy Matthew E, Green Eric D, Sidow Arend, Chakravarti Aravinda, McCallion Andrew S

Abstract excerpt

The ability to discriminate between deleterious and neutral amino acid substitutions in the genes of patients remains a significant challenge in human genetics. The increasing availability of genomic sequence data from multiple vertebrate species allows inclusion of sequence conservation and physicochemical properties of residues to be used for functional prediction. In this study, the RET receptor tyrosine...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 15956201
DOI: 10.1073/pnas.0503259102
PMCID: PMC1157046

Genes

RET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Phenotype-genotype correlation in Hirschsprung disease is illuminated by comparative analysis of the RET protein sequence.PMID 15956201Read ↗

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Systematic structure-based analysis of RET variants in MEN2A and Hirschsprung's disease, and the paradoxical co-occurrence of both conditions.Semantic proximity Read ↗

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Modeling the Effects of Single Nucleotide Polymorphisms (SNPs) on the Structure and Function of the Human RET Gene: An In Silico Study.Semantic proximity Read ↗

Multiple functional effects of RET kinase domain sequence variants in Hirschsprung disease.Semantic proximity Read ↗

Understanding human disease mutations through the use of interspecific genetic variation.Semantic proximity Read ↗

Co-evolution of alpha-helical transmembrane protein residues: large-scale variant profiling and complete mutational landscape of 2277 known PDB entries representing 504 unique human protein sequences.Semantic proximity Read ↗

Structural and Evolutionary Analysis of Human Growth Hormone VariantsSemantic proximity Read ↗

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.Semantic proximity Read ↗

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Functional Analysis of RET With Hirschsprung Mutations Affecting Its Kinase DomainSemantic proximity Read ↗

Identification of cis-suppression of human disease mutations by comparative genomics.Semantic proximity Read ↗

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