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The 3 VWFD Repeats and their Mutations

S.NOUniprot IDProtein Name Sequence LengthVWFD RegionMutationInvolvement of Repeats in Mutations
1 P04275 von Willebrand factor 28131149 1149 C->R: Reduced secretion and increased intracellular retention
when associated with S-1169
1169 1169 C->S: Reduced secretion and increased intracellular retention
when associated with R-1149
N
2 Q9HC84 Mucin-5B 57621790 1790 W->A: Poorly secreted
N
3 P98088 Mucin-5AC 56542122 2122 W->A: No binding to mannose-specific lectin
4926 4926 D->A,E: Abolishes cleavage
Y