Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes

BMC Cancer

Table 1 VHL mutant constructs used in this study

		Clinical phenotype (risk of tumor type)
Mutant VHL	Subtype	Pheo	Hemangio	RCC	References
del 114–178	1	-	++	++	[11, 53]
RC161/2QW	1				[53]
S65W	1				[29, 58, 59]
N78S	1				[28, 29]
L158P	1				[29]
L188Q	1				[29]^a
Y98H	2A	++	++	-	[29, 60, 61]
Y112H	2A				[28, 29, 62]
Y98N	2B	++	++	++	[4, 63]^a
Y112N	2B				[63]
R167Q	2B				[29, 58, 64, 65]
R167W	2B				[28, 29, 58, 64, 65]
V84L	2C	++	-	-	[66]^a
L188V	2C				[28, 61, 67]

ISSN: 1471-2407