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Table 2 Mutations and polymorphisms of PKD1 identified in this study

From: Identification of missense and synonymous variants in Iranian patients suffering from autosomal dominant polycystic kidney disease

Patient ID Region cDNA Change Amino Acid Change Type Clinical Significance
421 EX44 c.12014A > G p.Gln4005Arg Missense Uncertain Significance
48.1 Ex44 c.12092 T > A p.Leu4031X Stop codon ​ Definitely Pathogenic
418.2 Ex44 c.12103G > A p.Val4035Met Missense Possibly Damaging
45.1 EX44 c.12133A > G p.Ile4045Val Missense Likely Neutral
410.2 EX44 c.12133A > G p.Ile4045Val Missense Likely Neutral
47.1 Ex44 c.12039C > T p.Ser4013= Synonymous Not Reported
45.3 EX45 c.12276A > G p.Ala4092= Synonymous Likely Neutral
417.1 EX45 c.12276A > G p.Ala4092= Synonymous Likely Neutral
419.1 EX45 c.12276A > G p.Ala4092= Synonymous Likely Neutral
410.1 EX45 c.12276A > G p.Ala4092= Synonymous Likely Neutral
422 EX45 12217A > G p.Thr4073Ala Missense Likely Neutral