Description
The I24T variant in the DDC gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The I24T variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The I24T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where amino acids with similar properties to Isoleucine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (E25K and V33L) have been reported in the Human Gene Mutation Database in association with AADC deficiency (Stenson et al., 2014), supporting the functional importance of this region of the protein. We interpret I24T as a variant, likely pathogenic
| # | Sample | Method | Observation |
|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
|---|
| 1 | germline | yes | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |
