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Table 1 PKD2 variants in 21 ADPKD2 patients

From: TRPP2 dysfunction decreases ATP-evoked calcium, induces cell aggregation and stimulates proliferation in T lymphocytes

Patient number Family ID Mutation (cDNA) Protein change TRPP2 expression (ADPKD2/controls) Dialysis (age) Hypertension Extra-renal manifestations Pathogenicity of PKD2 mutation
90 PKD2MO65 8293C > T and 10043G > A in PKD1; IVS4 + 1G > A in PKD2 In PC1: Arg2765Cys and Arg3348Gln. In TRPP2: Ala365fs 0.74 no no none definitely pathogenic
91 PKD2MO50 2614C > T Arg872X 0.55 no yes Pancreatic and liver cysts definitely pathogenic
92 PKD2MO50 2614C > T Arg872X 0.78 no yes mitral prolapse definitely pathogenic
93 PKD2MO50 2614C > T Arg872X 0.31 yes (72) yes none definitely pathogenic
94 PKD2MO50 2614C > T Arg872X 0.7 no no none definitely pathogenic
95 PKD2MO87 ivs3 + 1G > T Phe282fs 0.86 yes (59) yes polycystic liver, diverticulosis of colon definitely pathogenic
96 PKD2MO87 ivs3 + 1G > T Phe282fs 0.43 yes (50) yes polycystic liver definitely pathogenic
97 PKD2MO87 ivs3 + 1G > T Phe282fs 0.51 no yes none definitely pathogenic
98 PKD2MO87 ivs3 + 1G > T Phe282fs NA yes (62) yes none definitely pathogenic
99 PKD2MO87 ivs3 + 1G > T Phe282fs NA yes (60) yes polycystic liver definitely pathogenic
100 PKD2MO21 ivs5 + 5G > A, ivs9 2020-2089_86del unknown NA no yes polycystic liver unknown
101 PKD2MO21 ivs5 + 5G > A, ivs9 2020-2089_86del unknown NA no yes none unknown
102 PKD2MO21 ivs5 + 5G > A, ivs9 2020-2089_86del unknown NA no yes none unknown
103 PKD2MO29 1158 T > A Tyr386X 0.39 no no polycystic liver definitely pathogenic
104 PKD2FE15 1158 T > A Tyr386X 0.47 yes (67) yes none definitely pathogenic
105 PKD2FE15 1158 T > A Tyr386X 0.31 no yes none definitely pathogenic
106 PKD2FE15 1158 T > A Tyr386X 0.55 yes (55) no cerebral aneurism definitely pathogenic
107 PKD2FE15 1158 T > A Tyr386X 0.39 yes (69) no none definitely pathogenic
108 PKD2FE5 858delC Ser286fs30X 0.27 yes (82) no myocardiosclerosis definitely pathogenic
109 PKD2FE5 858delC Ser286fs30X 0.35 yes (73) no obstructive vascular disease definitely pathogenic
110 PKD2FE5 858delC Ser286fs30X 0.39 yes (66) no polycystic liver, myocardiosclerosis and cerebral ictus definitely pathogenic
  1. ADPKD2 patient numbering is referred to Additional file 1: Table S1
  2. The age of ADPKD2 patients is ranging from 26 to 89 years. TRPP2 expression and clinical parameters are indicated. Values of TRPP2 were calculated as ratio between the levels of TRPP2 in ADPKD2 patients and healthy controls