VCP R155H
Progress Timeline
- Submitted
- Validated
Queue Position
Position #4 of 7 queued folds
Estimated wait: ~4 days (based on ~1 fold per day capacity)
Rationale
The R155H mutation is one of the most common pathogenic variants in VCP, strongly linked to inclusion body myopathy with Paget’s disease of bone and frontotemporal dementia (IBMPFD), as well as ALS and other neurodegenerative disorders. It impairs VCP’s ATPase activity and protein quality control functions, leading to accumulation of misfolded proteins. Structural prediction could reveal how this mutation affects hexamer assembly and ubiquitin binding.
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Activity Log
Hypothesis submitted
Validation Results
UniProt
Found
Gene: VCP
Protein: None
Accession: Q0IIN5
ClinVar
Not Found
No clinical annotations found for this variant
gnomAD
Found
Allele Frequency: 6.840507e-07
Allele Count: 1
PubMed
39 papers found
39 publications mention this protein variant