Novel polymorphisms in ENG and ACVRL1
| Gene | Exon/intron | Nucleotide change | Frequency | Amino acid change |
|---|---|---|---|---|
| Frequency expressed in terms of individuals tested. | ||||
| nd, not determined. | ||||
| ENG | Exon 10 | c.1374A→G | 2/100 | P458P |
| ENG | Intron 9a | IVS9a-4G→A | 1/80 | – |
| ACVRL1 | Intron 3 | IVS3-35A→G | nd | – |
| ACVRL1 | Intron 5 | g.6969C→T (IVS5-53C→T) | nd | – |
| ACVRL1 | Exon 10 | c.1452G→A | 1/144 | R484R |
| ACVRL1 | Exon 6 | c.666C→T | 1/140 | H222H |
| ACVRL1 | Intron 5 | g.6766del21 (IVS5+110del21) | 10/20 | – |