Table 1.
LRP1 variants in patients in two DDH families and 68 sporadic DDH patients
| Gene region | Nucleotide | Amino acid | Allele frequency | In silico prediction | Patient No. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1000g_chbs | ExAC_EAS | ESP6500 | gnomAD | SIFT | MutationTaster | ClinPred | DANN score | ||||
| Exon 40 | c.6386C > A | p.T2129K | – | 0.0006 | – | 2.784E-05 | D | D | D | 0.991 | 2726 |
| Exon 32 | c.5347C > T | p.R1783W | – | 0.0001 | – | 2.785E-05 | D | D | D | 0.999 | 2621 |
| Exon 81 | c. 12575C > A | p.P4192Q | – | 0.0001 | – | 1.697E-05 | T | D | T | 0.882 | 3193 |
| Exon 74 | c. 11441A > G | p.H3814R | – | – | – | – | T | D | D | 0.962 | 3174 |
| Exon 6 | c.670C > G | p.P224A | – | – | – | – | T | D | T | 0.798 | 3193 |
| Exon 54 | c.8600A > G | p.N2867S | – | 0 | – | 1.196E-05 | T | N | D | 0.997 | 3210 |
| Exon 26 | c.4361 + 6C > T | splicing | 0.000399 | 0.0038 | – | 0.0002538 | – | – | – | – | 3151 |
| Exon 18 | c.2798–4C > A | splicing | – | 0.0001 | – | 2.023E-05 | – | – | – | – | 3196 |
| Exon 42 | c.6842–4A > G | splicing | 0.000599 | 0.0024 | – | 0.0002133 | – | – | – | – | 3161 |
| Exon 13 | c.2174C > T | p.T725M | – | 0.0001 | – | 1.595E-05 | T | D | T | 0.986 | 3161 |
LRP1: NM_002332. –, not covered in the database; T, tolerated; D, damaging; N, polymorphism.