Table 1

Summary of the mutations already published for the ACVRL1 gene

ExonMutationEffectReferences
fs: frameshift
237 delCL13fs (+1aa) and stop 10
3143G>A/145del G/147insTG48E; A49P 13
3140 ins Gfs and premature stop 12
3150G>TW50C 11
3152G>AC51Y 12
3200G>AR67Q 11
3231C>GC77W 12
3286A>GN96D 12
4400delGfs and premature stop in exon 4 12
4406-9 delGGTGfs and premature stop in exon 4 12
4423G>AW140X 11
4475G>TE159X 11
6694-6 delTCCdel S232 2
6696-698del CTCdel S232 15
6759-761delCGAdel D254 10
7865 insTfs and stop in exon 7 11
7998G>TS333I 11
71031G>AC344Y 13
7924C>AC308X 11
81120C>TR374W 11
81126T>GM376R 2
81193T>AI398N 14
81221G>TE407D 13
81231C>TR411W 10
81232G>AR411Q 2
91207C>AP424T 11
101445C>TA482V 9
101450C>TR484W 10
101468C>TQ490X 10