Mutations in the von Hippel-Lindau Tumour Suppressor Gene in Central Nervous System Hemangioblastomas

Table 1 VHL gene mutations in hemangioblastoma of the central nervous system

Case	Mutation	Consequence	Character
		exon1
1	150C>T	Ala50Ala	Uv
2	163G>A	Glu55Lys	Uv
3	170G>C	Gly57Ala	Uv
4	173G>A	Arg58Gln	Uv
5	174del149	In frame	Somatic mutation
6	184G>A	Val62Met	Uv
7	193T>C	Ser65Pro	Germline mutation
8	194C>G	Ser65Trp	Uv
9	196G>A	Val66Met	Uv
10	206insG	Frameshift	Somatic mutation
11	218A>G	Gln73Arg	Uv
	302T>C	Leu101Pro
12	220G>A	Val74Ile	Uv
13	227T>A	Phe76Tyr	Uv
14	227T>C	Phe76Ser	Uv
15	232A>G	Asn78Asp	Somatic mutation
16	233A>G	Asn78Ser	Germline mutation
17	233A>G	Asn78Ser	Uv
18	233A>G	Asn78Ser	Uv
19	233A>G	Asn78Ser	Uv
20	239G>A	Ser80Asn	Uv
21	239G>A	Ser80Asn	Uv
22	240T>G	Ser80Arg	Uv
23	250 G>A	Val84Met	Uv
24	254T>C	Leu85Pro	Uv
25	257 C>T	Pro86Leu	Uv
26	259delTAT	In frame	Uv
27	263G>A	Trp88X	Somatic mutation
28	266T>A	Leu89His	Uv
29	266T>A	Leu89His	Somatic mutation
30	266T>C	Leu89Pro	Somatic mutation
	194C>T	Ser65Leu	Germline mutation
31	266T>G	Leu89Arg	Uv
32	268A>T	Asn90Tyr	Uv
33	275A>G	Asp92Gln	Uv
34	334 T>C	Tyr112His	Somatic mutations
	254del54	In frame
35	338G>A	Arg113Gln	Uv
36	340G>C	Gly114Arg	Uv
37	IVS1+1G>A	Splice	Germline mutation
exon2
38	353T>C	leu118pro	Uv
39	357delC	Frameshift	Somatic mutation
40	363delT	Frameshift	Uv
41	379G>A	Gly127Arg	Uv
42	382C>T	Leu128Phe	Uv
43	403T>A	Leu135Ile	Uv
44	437delC	Frameshift	Uv
45	463G>T	Val155Leu	Uv
46	463G>A	Val155Met	Germline mutation
47	IVS2+2T>C	Splice	Uv
48	IVS2+2T>G	Splice	Uv
exon3
49	474 delG	Frameshift	Uv
50	477-478insCA	Frameshift	Germline mutation
51	481C>T	Arg161X	Germline mutation
52	486C>G	Cys162Trp	Uv
53	499C>T	Arg167Trp	Germline mutation
54-70	IVS3-1G>T*	Splice	Somatic mutation?

Germline mutation - mutation detected in DNA from tumour and from peripheral blood leukocytes
Somatic mutation - mutation present in tumour but not in peripheral blood leukocytes
Uv - unverified variant (detected in tumour - blood sample not tested)
* - mutation present in tumour tissue, but not detected in DNA isolated from blood leukocytes of four available cases - probably somatic mutation

ISSN: 1897-4287