Table 1 Pathogenicity assessment of TUBA3D mutations.
From: De novo mutations of TUBA3D are associated with keratoconus
Nucleotide change | Amino acid change | Predictions of pathogenicity | Frequency in patient alleles (Methods) | Frequency in control alleles (Methods) | |
|---|---|---|---|---|---|
SIFT | Mutation taster | ||||
c.31 C > T | p.Glu11Stop | Deleterious | Disease causing | Twins family (WES and Sanger sequencing) | 0/200 (HRM) |
c.201insTT | p.Val68Leufs*2 | NA | Disease causing | 1/200 (Sanger sequencing) | 0/200 (HRM) |
c.*2 G > A | 3′UTR | NA | NA | 1/200 (Sanger sequencing) | 0/200 (Sanger sequencing) |
