Table 2.
Information on DNAH5 gene mutations in the proband and some reported mutations
| RefSeq | Base change | Amino acid change | Exon | ACMG | Prediction of protein function | Reference |
|---|---|---|---|---|---|---|
| NM_001369.3 | c.13,338 + 5G > C | splicing-mut | 76 | PP1 + PP3 + PM2 | Uncertain | This report |
| NM_001369.3 | c.4314delT | p.Asn1438Ly sfs *10 | 27 | PSC1 + PM2 + PP4 | Pathogenic | This report |
| NM_001369.3 | [IVS76 + 5G > A] | splicing-mut | 76 | / | Pathogenic | Hornef et al. PMID: 16,627,867 |
| NM_001369.3 | c.8440_8447delGAACCAAA | p.Glu2814fs*1 | 50 | / | Pathogenic | Hornef et al. PMID: 16,627,867 |
| NM_001369.3 | c.4361G > A | p.Arg1454Gln | 28 | / | Pathogenic | Olbrich et al. PMID: 11,788,826 |
| NM_001369.3 | c.8910 + 8911delAT→insG | p.Ser2970Leufs*7 | 53 | / | Pathogenic | Olbrich et al. PMID: 11,788,826 |
| NM_001369.3 | c.7897_7902delAGAG | p.Glu2633Alafs*18 | 47 | / | Pathogenic | Raidt et al. PMID: 25,186,273 |
| NM_001369.3 | C. 10815delT | p.Pro3606Hisfs*22 | 64 | / | Pathogenic | Raidt et al. PMID: 25,186,273 |
Note: RefSeq, NCBI reference sequence; ACMG, American college of medical genetics and genomics