Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1

Table 2 NF1 mutations identified in this study

Family Number	Mutation Position	Nucleotide Change	Amino Acid Change	Mutation Type	References
1	Exon 11	c.1246C>T	p.R416*	Nonsense	Reported^a
2	Exon 36	c.4802delT	p.L1601Cfs*2	Deletion	Novel
3	Exon 37	c.5428delT	p.W1810Gfs*32	Deletion	Novel
4	Exon 28	c.3826C>T	p.R1276*	Nonsense	Reported
5	Exon 39	c.5791T>C	p.W1931R	Missense	Reported
6	Exon 18	c.2062G>T	p.E688*	Nonsense	Novel
7	Exon 33	c.4469T>C	p.L1490P	Missense	Reported
8	Exon 17	c.1885G>A	p.G629R	Missense	Reported
9	Exon 16	c.1754_1757delTAAC	p.T586Vfs*18	Deletion	Reported
10	Exon 41	c.6102C>A	p.C2034*	Nonsense	Novel
11	Exon 45	c.6791dupA	p.Y2264*	Duplication	Reported

^aThe mutation has been reported in the Human Gene Mutation Database (HGMD; Professional 2016.4)

ISSN: 1471-2350