BMPR1A mutations in JP cases
| Case | Type* | Affected sequenced (n) | Exon | Nucleotide change | Result |
|---|---|---|---|---|---|
| *Fam, familial; Spor, sporadic; Unk, unknown. | |||||
| JP17 | Fam | 9 | 1 | 44-47delTGTT | Stop 35-6 |
| JP74 | Unk | 1 | 2 | 170C>G | P57R |
| JP5 | Fam | 2 | 2 | 184T>G | Y62D |
| JP72 | Unk | 1 | 3 | 233C>T | T78I |
| JP57 | Spor | 1 | 3 | 245G>A | C82Y |
| JP20 | Fam | 2 | 3 | 262G>T | E84X |
| JP46 | Fam | 1 | 4 | 349C>T | Q117X |
| JP14 | Fam | 1 | 4 | 353delT | Stop 122-3 |
| JP53 | Fam | 1 | 6 | 673delT | Stop 259-60 |
| JP16 | Fam | 8 | 7 | 715C>T | Q239X |
| JP18 | Fam | 6 | 7 | 812G>A | W271X |
| JP25 | Spor | 1 | 7 | 864-868delACTTGIVS7+1-2delgt | Loss of exon 7 splice site; stop at new codon 292 |
| JP19 | Fam | 5 | 8 | 961delC | Stop 321-2 |
| JP43 | Spor | 1 | 8 | 1013C>A | A338D |
| JP9 | Fam | 1 | 8 | 1061delG | stop 363-4 |
| JP58 | Spor | 1 | 9 | 1327C>T | R443C |