Mutation type*1 | Mutation position | Length of affected nucleotides | Nucleotide sequence after mutation | Mutation name | Case # | Consequence | Symptom | Onset | Hereditary Pattern*3 | Ethnic Origin | Reference |
M | 188 | 1 | G | N63S | 1 | AAC-AGC at ntd 188 -> Asn-Ser at codon 63 | ND | ND | AD | British | Mackay, D. et al. Am. J. Hum. Genet. 64, 1357 (1999) |
FI | 1137 | 0 | C | 1137insC | 1 | 1-bp ins at ntd 1137 -> frameshift at codon 380 | 1*2 | at birth or developed during infancy | AD | British | Mackay, D. et al. Am. J. Hum. Genet. 64, 1357 (1999) |