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]

Pheo, pheochromocytoma; hemangio, hemangioblastoma; RCC, renal cell carcinoma

^a subtype designation based on a small family