Mutation type*1 | Mutation position | Length of affected nucleotides | Nucleotide sequence after mutation | Mutation name | Case # | Consequence | Disease | Symptom | Hereditary Pattern*2 | Zygousity | Mutation Position | Onset | Progress | Ethnic Origin | Reference | Memorization |
FD | 884 | 8 | 884del8 | 1 | 8-bp del GCTATCCA at ntd 887 → frameshift at codon 295 and premature stop at position 299. | Deafness, non-syndromic, autosomal dominant | hearing threshold greater than 40dB (at 1000 and 2000 Hz), low frequency | AD | heterozygous | exon 2. Theird herix of the POU homeo-domain. | young adulthood | progressive | Israeli Jewish | Vahava,O. et al. Science 279,1950(1998) | Truncated protein presumably impairs high-affinity binding of this transcprition factor in a dominant-negative fashion |