MAPT SODA1
Progress Timeline
- Submitted
- Validated
Rationale
a genetic change in the SOD1 gene where the fourth amino acid is altered from alanine to valine. It is the most common cause of genetic amyotrophic lateral sclerosis (ALS) in North America. This mutation leads to a rapidly progressive, fatal disease.
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Activity Log
Validation complete: rejected
Hypothesis submitted
Validation Results
UniProt
Found
Gene: MAPT
Protein: Microtubule-associated protein
Accession: A0A7I2PJZ2
ClinVar
Not Found
No clinical annotations found for this variant
gnomAD
Not Found
No population frequency data found
PubMed
0 papers found
No publications found for this specific variant
Hypothesis Rejected
No supporting evidence found in ClinVar, gnomAD, or PubMed