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The 2 PKD Repeats and their Mutations

S.NOUniprot IDProtein Name Sequence LengthPKD RegionMutationInvolvement of Repeats in Mutations
1 Q5VV43 Dyslexia-associated protein KIAA03191072995 995 Y->A: Loss of interaction with AP2M1 and impaired endocytosis
N
2 P98161 Polycystin-1 43033049 3049 T->C,S: Does not affect auto-cleavage
3049 3049 T->G,R,V: Does not undergo auto-cleavage
N