Table 2

Sequence changes identified in the NF1 gene in the patients with neurofibromatosis type 1 (NF1) optic pathway gliomas (OPGs)

Study number	Location^*	DNA change	Protein change	Type	Pathogenic mutation	Reported^†	Presence of SNP	Affected first-degree relative
GS10	Exon 2 Exon 2	c.98-99delAA		F	Yes	No	NA	Yes
GS05	Exon 4b Exon 5	c.574C→T	R192X	N	Yes	HGMD18	NA	Yes
MS02	Exon 7 Exon 9	c.1011 ins T		F	Yes	No	NA	No
MS06	Exon 7 Exon 9	c.1012G→A	D338N	M	Potentially Yes	No	No	No
MS11	Exon 10a Exon 12	c.1306-1307delTC		F	Yes	No	NA
MS03	Exon 10a Exon 12	c.1381C→T	R461X	N	Yes	18	NA	No
MS12	Exon 10c Exon 14	c.1544-1545delGG		F	Yes	No	NA	Yes
GS04	IVS11 IVS15	c.1721+3 A→G		I	Yes	18 21	NT	No
MS16	Exon 12a Exon 16	c.1722C→A	S574R	M	Potentially Yes	22 ^‡	No
MS07	Exon 16 Exon 21	c.2446 C→T	R816X	N	Yes	18	NA	No
MS08	IVS 21 IVS 27	c.3709-1G→C		SS	Yes	No	NT	No
MS15	Exon 34 Exon 42	c.6524 dupGA		F	Yes	No	NA
GS09	Exon 37 Exon 45	c.6788-6792del TTAC		F	Yes	HGMD	NA	No
MS14	Exon 42 Exon 50	c.7411C→T	Q2471X	F	Yes	No	NA	Yes

↵* Lower numbering corresponds to NCBI.
↵† Checked if reported in reference13 14 18–22 and the HwGM (http://archive.uwcm.ac.uk/uwcm/mg/hgmd0.html).
↵‡ ?Amino acid substitution or interference with normal splicing.
F, frameshift; I, intronic; M, missense; N, nonsense; NA, not applicable; NT, not tested; SNP, single-nucleotide polymorphism; SS, splice site.