Table 2. Relationship between mutation location in cochlin and abnormal findings.
| Origin | Mutation in domain | Amino acid change | Cleavage of LCCL domain | Vestibular symptoms | Cochlin dimer or aggregates | Early-onset hearing loss |
|---|---|---|---|---|---|---|
| de Kok et al. (1999, Netherlands) | LCCL | P51S | Disrupted | + | Dimer | - |
| Robertson et al. (1998, United States) | LCCL | V66G | Disrupted | +/- | Dimer | - |
| Robertson et al. (1998, United States and Netherlands) | LCCL | G88E | Disrupted | + | Dimer | - |
| Pauw et al. (2007, Netherlands) | LCCL | I109T | Disrupted | + | Dimer | - |
| Robertson et al. (1998, Korea) | LCCL | W117R | Disrupted | +/- | Dimer | - |
| Hildebrand et al. (2010, United States) | LCCL | F121S | N | + | Dimer | - |
| Jung et al. (2015, Korea) | LCCL | V123E | Disrupted | - | Dimer | - |
| Gao et al. (2012, China) | ivd1 | C162Y | Disrupted | - | Aggregates | + |
| This study (China) | ivd1 | C162Y | Disrupted | + | Aggregates | _ |
| Cho et al. (2012, Korea) | vWFA2 | F527C | N | - | Aggregates | + |
| Yuan et al. (2008, China) | vWFA2 | C542Y | N | - | Aggregates | + |
+, presented in the family
-, not presented in the family
N, not identified.