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Table 1 VHL mutant constructs used in this study

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

   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]
  1. Pheo, pheochromocytoma; hemangio, hemangioblastoma; RCC, renal cell carcinoma
  2. a subtype designation based on a small family