Query author contributions in Reactome
Reactome depends on collaboration between our curation team and outside experts to assemble and peer-review its pathway modules. The integration of ORCID within Reactome enables us to meet a key challenge with authoring, curating and reviewing biological information by incentivizing and crediting the external experts that contribute their expertise and time to the Reactome curation process. More information is available at ORCID and Reactome.
If you have an ORCID ID that is not listed on this page, please forward this information to us and we will update your Reactome pathway records.
Details on Person The following mutations in IVD have been identified in patie...
| Class:Id | Summation:9914759 |
|---|---|
| _displayName | The following mutations in IVD have been identified in patie... |
| _timestamp | 2024-07-31 18:59:34 |
| created | [InstanceEdit:9914760] Rothfels, Karen, 2024-06-27 |
| modified | [InstanceEdit:9914841] Rothfels, Karen, 2024-06-27 [InstanceEdit:9916976] Rothfels, Karen, 2024-07-29 [InstanceEdit:9916984] Rothfels, Karen, 2024-07-29 [InstanceEdit:9917207] Rothfels, Karen, 2024-07-31 |
| text | The following mutations in IVD have been identified in patients with varying phenotypic presentations of isovaleric acidemia. Each mutation identified as a member of this disease set have been shown to have significantly decreased or abolished protein levels and/or enzymatic activity (Mohsen et al, 1998; Dercksen et al, 2012; D'Annibale et al, 2021). Mutations annotated as candidates of this disease set are predicted to have compromised function based on structural modeling, predicted changes to physicochemical properties and in silico pathogenetic and stability assays (Zaki et al, 2017). Most of the mutations in this set, both candidates and members, are designated as "pathogenic" or "likely pathogenic" in ClinVar. Members: L45P: severely reduced protein expression (Mohsen et al, 1998) R53P: rapidly degraded; no detectable enzyme activity (Mohsen et al, 1998; D'Annibale et al, 2021) D72N: no detectable enzyme activity (Mohsen et al, 1998) G123R: decreased steady state protein levels, almost no detectable enzyme activity (Dercksen et al, 2012) T239I: reduced protein expression and enzyme activity (D'Annibale et al, 2021) A314V: mild variant: decreased protein level and activity, but retains some function (Mohsen et al, 1998; D'Annibale et al, 2021) M332T: reduced protein expression and enzyme activity (D'Annibale et al, 2021) R340Q: reduced protein expression and enzyme activity (D'Annibale et al, 2021) C360R: rapidly degraded; no detectable enzyme activity (Mohsen et al, 1998) V374A: decreased protein stability and activity (Mohsen et al, 1998); R395C: decreased protein stability and activity (Mohsen et al, 1998) R414L: decreased protein stability and activity (Mohsen et al, 1998; D'Annibale et al, 2021). Candidates: I379T: predicted to be pathogenic and destabilizing by 10 out of 12 in silico tools (Zaki et al, 2017) R398Q: predicted to be pathogenic and destabilizing by 10 out of 12 in silico tools (Zaki et al, 2017) Y403N: predicted to be pathogenic and destabilizing by 7 out of 12 in silico tools (Zaki et al, 2017). |
| (summation) | [FailedReaction:9914837] IVD mutants don't synthesize beta-methylcrotonyl-CoA [Homo sapiens] |
| [Change default viewing format] | |
No pathways have been reviewed or authored by The following mutations in IVD have been identified in patie... (9914759)
