Mutation | Amino acid change | Type of mutation | Location | Individuals with HPE | Individuals without HPE |
c.9_12dup4 | p.Arg6GlyfsX59 | Frameshift | N terminus | 4 alobar | 1 microform |
c.136C→T | p.Gln46X | Nonsense | N terminus | 1 semilobar; 2 HPE type unknown | 2 microform |
c.383G→A | p.Trp128X | Nonsense | N terminus | 3 alobar | 1 microform |
c.664G→A | p.Asp222Asn | Missense | C terminus | 2 semilobar; 7 HPE type unknown | 3 microform; 1 none; 1 not HPE unknown |
HPE, holoprosencephaly.