Table 2.
Congenital Heart defects associated with CM/AVM due to heterozygous RASA1 truncating mutations
| RASA1 gene nucleotide change* | Putative effect at amino acid level | Cardiac feature |
|---|---|---|
| c.1572_1575dup | p.Ser526MetfsX8 | CO, TOF |
| c.1682_1683dup | Pro562LeufsX9 | CF, ASDII/PFO |
| c.1698+3_1698+4insT | Splicing affected | PS |
| c.2125C>T | p.Arg709X | CF |
| c.21841+1delG | Splicing affected | PDA, ASD, PS, prolapsed TV |
| c.806_810delTTTAC | p.Leu269ProfsX11 | CO |
| c.957G>A | p.Trp319X | CO |
*This table is adapted from Revencu et al. (18). Nucleotide numbering was based on cDNA sequence NM_002890.1. Mutations were named according to http://www.hgvs.org/mutnomen/.
CM/AVM; Capillary malformation/arteriovenous malformation, CO; Cardiac overload, TOF; Tetralogy of fallot, CF; Cardiac failure, ASD; Atrial septal defect, PFO; Patent foramen ovale, PS; Pulmonary stenosis, PDA; Patent ductus arteriosus, and TV; Tricuspid valve.