Survival and NF1 Analysis in a Cohort of Orthopedics Patients with Malignant Peripheral Nerve Sheath Tumors

Table 2

MPNST-related NF1 germline mutations.

Mutation	Effect	Exon
c.499delTGTT	Frameshift	5
c.958 G > Cp.Ala320Pro	Missense	9
c.1039 C > Tp.Gln347X	Nonsense	9
c.1782delAG	Frameshift	16
c.2325 G > A	Splice error	19
c.2352 G > Ap.Trp784X	Nonsense	20
c.2446 C > Tp.Arg816X	Nonsense	21
c.2534insG	Frameshift	21
c.2540 T > Cp.Leu847Pro	Missense	21
c.2991-1G > A	Splice error	23
c.3113+1G > C	Splice error	23
c.3456_3457insA	Frameshift	26
C. 3683delC	Frameshift	27
c.3826 C > Tp.Arg1276X	Nonsense	28
c.4255 A > Tp.Lys1419X	Nonsense	32
c.4435 A > G	Splice error	34
c.4868 A > Tp.Asn1623Val	Missense	37
c.5242 C > Tp.Arg1748X	Nonsense	38
c.5914 C > Tp.Gln1981X	Nonsense	40
c.6148 C > Tp.Gln2050X	Nonsense	42
c.6302 C > Gp.Thr2101Arg	Missense	42
c.7285 C > Tp.Arg2429X	Nonsense	50
Whole-gene deletion (n = 4)	Null	All
Large intragenic gene deletion (n = 1)	Likely null	2–50

n = 27. NCBI RefSeq: NM_0000267.