From: Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD)
Family # | Patient # | s.i. | nNO | % cilia with the defects identified in electron microscope | Mutation 1 | Mutation 2 | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Exon or Intron | DNA | Protein | SVM score | Exon or Intron | DNA | Protein | SVM score | |||||
125 | 480 | yes | na | 100% ODA/IDA, 5% MT | 17 | 1612G > A | A538T | -1.3 | 17 | 1612G > A | A538T | -1.3 |
106 | 412 | yes | na | 38%ODA/IDA, 46% ODAorIDA, 23% MT | 17 | 1612G > A | A538T | -1.3 | 17 | 1612G > A | A538T | -1.3 |
" | 413 | no | na | na | " | " | " | " | " | " | " | " |
151 | 555 | yes | 47 | 80% ODA/IDA,4% MT | 17 | 1612G > A | A538T | -1.3 | 17 | 1612G > A | A538T | -1.3 |
" | 556 | yes | 3 | 100% ODA/IDA | " | " | " | " | " | " | " | " |
161 | 124 | yes | na | 85% ODA/IDA, 9% MT | Intr1 | IVS1+2-3insT | S17fsX25 | nr | 17 | 1612G > A | A538T | -1.3 |
108 | 421 | no | na | 87% ODA/IDA,13% IDA | Intr1 | IVS1+2-3insT | S17fsX25 | nr | 17 | 1612G > A | A538T | -1.3 |
" | 422 | no | na | 100% ODA/IDA,13% IDA, 18% MT | " | " | " | " | " | " | " | " |
124 | 478 | yes | na | na | Intr1 | IVS1+2-3insT | S17fsX25 | nr | Intr1 | IVS1+2-3insT | S17fsX25 | nr |
112 | 434 | yes | na | na | Intr1 | IVS1+2-3insT | S17fsX25 | nr | Intr1 | IVS1+2-3insT | S17fsX25 | nr |
231 | 520 | no | na | na | Intr1 | IVS1+2-3insT | S17fsX25 | nr | Intr1 | IVS1+2-3insT | S17fsX25 | nr |
224 | 507 | yes | na | na | Intr1 | IVS1+2-3insT | S17fsX25 | nr | 16 | 1538T > C | L513P | -2.1 |
238 | 537 | yes | na | na | 13 | 1163G > A | C388Y | -2.7 | 16 | 1543G > A | G515S | -2.4 |
244 | 548 | no | 48 | na | Intr1 | IVS1+2-3insT | S17fsX25 | nr | ? | ? | ? | ? |
216 | 355 | no | 37 | na | Intr1 | IVS1+2-3insT | S17fsX25 | nr | ? | ? | ? | ? |
" | 356 | no | 49 | na | " | " | " | " | " | " | " | " |
" | 357 | no | 28 | na | " | " | " | " | " | " | " | " |
145 | 336 | yes | na | na | 3'UTR | +245G > A | SNP | nr | ? | ? | ? | ? |