Description
The G1204E variant in the COL4A1 gene has not been published as a pathogenic variatn, nor has it been reported as a benign polymorphism to our knowledge. The G1204E 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 G1204E 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 in the triple helical region, specifically the Glycine residue in the Gly-X-Y repeat, that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. The G1204E variant is a strong candidate for a disease-causing variant However, the possibility it may be a rare benign variant cannot be excluded.
| # | 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 |
