Table 2.
Genetic information of CCDC39 variants of the two PCD patients.
| Subject | F1 II-1 | F2 II-1 | |
|---|---|---|---|
| cDNA mutation | M1: c.286C>T (homozygous) | M2: c.732_733del | M3: c.2800_2802dup |
| Exon | Exon 3 | Exon 6 | Exon20 |
| Mutation type | Nonsense | Frameshift deletion | Nonframeshift duplication |
| Protein alteration | p.Arg96Ter | p.Ala245PhefsTer18 | p.Val934dup |
| rs ID | 778577109 | NA | 556950924 |
| Allele frequency in human population | |||
| 1KGP | 0 | 0 | 5.99 × 10−4 |
| ExAC_all | 2.72 × 10−5 | 0 | 1.50 × 10−4 |
| gnomAD | 5.16 × 10−6 | 0 | 1.18 × 10−4 |
| Deleterious prediction | |||
| SIFT | NA | NA | NA |
| PolyPhen-2 | NA | NA | NA |
| MutationTaster | D | NA | NA |
RefSeq accession number of CCDC39 is NM_181426. Abbreviations: 1KGP: 1000 Genomes Project; ExAC_all: all the data of Exome Aggregation Consortium; gnomAD: Genome Aggregation Database; D: disease-causing; NA: not available.