Family (case*) | Location | Nucleotide change† | Effect on protein |
---|---|---|---|
*F=familiar, S=sporadic. | |||
†Mutation description is according to Antonarakis et al12 with the cDNA sequence of OFD1 used as the reference and with the ATG translation initiation codon denoted as nucleotide +1. | |||
I (F) | Intron 5 | IVS5-10T>G | Abnormal splicing |
II (F) | Exon 16 | 1887-1888insAT | Frameshift |
III (S) | Exon 3 | 235G>A | A79T† |
IV (S) | Exon 13 | 1409delA | Frameshift |