About: Protein Truncation Abnormality

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An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	Class
rdfs:label	Protein Truncation Abnormality
rdfs:subClassOf	Protein Sequence Abnormality
Semantic_Type	Cell or Molecular Dysfunction
Preferred_Name	Protein Truncation Abnormality
UMLS_CUI	C1706395
Legacy_Concept_Name	Protein_Truncation_Abnormality
FULL_SYN	Protein TruncationSYNCI Protein Truncation AbnormalityPTNCI TruncationSYNCI
DEFINITION	Translation of a truncated form of a wild-type protein that originates from a mutation or mutations in the coding sequence of a gene. Genetic alterations that yield truncated protein products include frameshift mutations, nonsense mutations or splice site mutations. The activity of a truncated protein is usually reduced or abolished in comparison to the activity of the wild-type protein.NCI
code	C45596
is someValuesFrom of	nodeID://b655777 nodeID://b655862 nodeID://b655873 nodeID://b655987 nodeID://b656107 nodeID://b656118 nodeID://b656136 nodeID://b656209 nodeID://b656217 nodeID://b657375

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