Table 2.

Details of ACVRL1 mutations.

Patient	Mutation location	Nucleotide changea	Amino acid changeb	Mutation category	Reference
1	Exon3	c.77C>T	p.P26L	Missense	Reported
2	Exon5	c.601C>A	p.Q201K	Missense	17
3	Exon6	c.643G>A	p.E215K	Missense	Reported
4	Exon6	c.665A>C	p.H222P	Missense	Novel
5	Exon6	c.676G>A	p.V226M	Missense	Reported
6	Exon7	c.955G>C	p.G319R	Missense	18
7	Exon8	c.1120C>T	p.R374W	Missense	9,19
8	Exon8	c.1135G>A	p.E379K	Missense	20
9	Exon8	c.1217G>T	p.W406L	Missense	Novel
10	Exon8	c.1231C>T	p.R411W	Missense	21
11	Exon10	c.1450C>T	p.R484W	Missense	6
12	Exon10	c.1451G>A	p.R484Q	Missense	22–25

^aThe mutation nomenclature follows current guidelines as recommended by the Human Genome Variation Society. Transcript is NM-000020. The letter c. indicates the numbering of the base change.

^bThe letter p. is used to indicate the change at the protein level.