S.NO | Uniprot ID | Protein Name | Sequence Length | VWFD Region | Mutation | Involvement of Repeats in Mutations |
1 | P04275 | von Willebrand factor | 2813 | 1149 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 | 5762 | 1790 1790 W->A: Poorly secreted | N | |
3 | P98088 | Mucin-5AC | 5654 | 2122 2122 W->A: No binding to mannose-specific lectin 4926 4926 D->A,E: Abolishes cleavage | Y | |