Medical Subject Headings

Last uploaded: August 28, 2024
Preferred Name

Mutation, Missense
Synonyms

Missense Mutations

Mutations, Missense

Missense Mutation

Definitions

A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)

ID

http://purl.bioontology.org/ontology/MESH/D020125

altLabel

Missense Mutations

Mutations, Missense

Missense Mutation

AQL

DE ES GE IM PH RE

cui

C0599155

DC

1

definition

A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)

DX

19990101

FX

D019943

D017354

HN

99

Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000941

http://purl.bioontology.org/ontology/MESH/Q000502

http://purl.bioontology.org/ontology/MESH/Q000187

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000528

Inverse of RO

http://purl.bioontology.org/ontology/MESH/D019943

http://purl.bioontology.org/ontology/MESH/D017354

Machine permutation

99

MDA

19980610

MMR

20080708

MN

G05.365.590.650

notation

D020125

prefLabel

Mutation, Missense

TERMUI

T059906

TH

NLM (1999)

tui

T045

subClassOf

http://purl.bioontology.org/ontology/MESH/D009154

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