Mutation | Genotype | Age of onset | Refolding of LCCL domain |
---|---|---|---|
*Present work. | |||
V104del* | Heterozygous | 4th decade | Impaired* |
I109N5 | Heterozygous | 2nd–3rd decade | − |
V66G2 | Heterozygous | 2nd–3rd decade | Impaired7 |
G88E2 | Heterozygous | 5th decade | Impaired7 |
W117R2 | Heterozygous | 5th decade | Preserved7 |
P51S3 | Heterozygous | 4th decade | Impaired7 |