Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11–17 distinct from the GAP related domain

Table 3

Polymorphisms found during the mutation analysis process. Twenty such sequence variations were recorded in a normal subject or in an affected patient who had already had a mutation characterised

Exon	Base	P	Q	Amino acid change	p	q	Found with:
Exon	Base	P	Q	Amino acid change	p	q	Unaffected	Definite	Others
1	1-22 G>C	G	C		0.984	0.016	Y	7486 C>T R2496X	Y
2	61-4 del T	9T	8T		0.996	0.004		1642-2 A>G
2	168 C>T	C	T	S56S	0.959	0.041	Y	4045 ins T S1373X	Y
4b	528 T>A	T	A	D176E	0.996	0.004	Y
5	702 A>G	A	G	L234L	0.728	0.364	Y	many	Y
7	889-31 del ATTAT				0.996	0.004		1885 G>A G629R
10b	1393-32 C>T	C	T		0.707	0.403	Y	many	Y
10c	1528-29 del T	8T	7T		0.694	0.320	Y	many	Y
11	1642-25 T>C	T	C		0.973	0.027	Y	7096 del 6	Y
12a	1810 T>C	T	C	L604L	0.993	0.007		4255 A>G K1419E
16	2617 C>T	C	T	R873C	0.996	0.004		1-14 to 7 del 21bp
16	2531 G>A	G	A	G844G	0.996	0.004		1994C>T S665F
17	2851-16 T>C	T	C		0.977	0.023	Y	3528 del A L1183X
22	3867C>T	C	T	F1289F	0.996	0.004		1885 G>A G629R
29	5546-19 T>A	T	A		0.598	0.471	Y	many	Y
32	6084+8 C>G	C	G		0.996	0.004		1318 C>T R440X
33	6173 C>A	C	A	A2058D	0.995	0.005		6181del 8bp D2074X
39	7126+37 G>C	G	C		0.937	0.063	Y	many	Y
42	7395-29 A>G	A	G		0.666	0.356	Y	many	Y
46	8050+20 G>A	G	A		0.989	0.011	Y

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Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11–17 distinct from the GAP related domain

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