Skip to main content

Table 5 – Comparison of predictions with known experimentally characterised effect

From: Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine

Mutation Known effect om amino acids transport SIFT PolyPhen-2 Mutation Assessor FATHMM Condel CADD
b(0+)AT – G105R reduced to 10% of WT Damaging Probably Damaging Medium Damaging Damaging Damaging
b(0+)AT A182T reduced to 60% of WT Tolerated Benign Low Damaging Damaging Damaging
b(0+)AT
R333W
reduced to 10% of WT Damaging Probably Damaging High Damaging Damaging Damaging