UBA1 NP_003325.2:p.M41X

Preferred Label : UBA1 NP_003325.2:p.M41X;

NCIt synonyms : UBA1 p.M41X; A1S9T M41X; UBA1 M41X; NP_003325.2:p.Met41Xxx; UBE1 M41X; Ubiquitin-Activating Enzyme E1 M41X; NP_003325.2:p.M41X; Ubiquitin-Like Modifier-Activating Enzyme 1 Met41Xxx; UBA1 NP_003325.2:p.Met41Xxx; Ubiquitin-Like Modifier-Activating Enzyme 1 M41X; UBA1 p.Met41Xxx; A1S9T Met41Xxx; UBA1 Met41Xxx; UBA1 Methionine-41 Mutation; UBE1 Met41Xxx; Ubiquitin-Activating Enzyme E1 Met41Xxx;

NCIt definition : A change in the amino acid residue at position 41 in the ubiquitin-like modifier-activating enzyme 1 protein where methionine has been replaced by another amino acid.;

NCIt note : This amino acid substitution is associated with VEXAS syndrome.;

Détails

Origin ID

C214967;

concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_product_variant_of_gene_product
- Ubiquitin-Like Modifier-Activating Enzyme 1 [NCIt concept]
molecular_abnormality_involves_gene
- UBA1 Gene [NCIt concept]

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