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| | Tips: The Domains on the Default View are decided by the Domain's E-Value. Clicking a check box will display or hide the correlated domain. To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic. |
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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_015607 | Disease | p.ALA72GLY | Noonan syndrome 1 (NS1) | Swiss-Prot | VAR_015608 | Disease | p.ALA72SER | Noonan syndrome 1 (NS1) | Swiss-Prot | VAR_027190 | Disease | p.ALA465THR | LEOPARD syndrome 1 (LEOPARD1) | Swiss-Prot | VAR_015996 | Disease | p.ALA72THR | Leukemia, juvenile myelomonocytic (JMML) | Swiss-Prot | VAR_015997 | Disease | p.ALA72VAL | Leukemia, juvenile myelomonocytic (JMML) | Swiss-Prot | VAR_027192 | Disease | p.ARG502LEU | LEOPARD syndrome 1 (LEOPARD1) | Swiss-Prot | VAR_015622 | Disease | p.ARG505LYS | Noonan syndrome 1 (NS1) | Swiss-Prot | VAR_027193 | Disease | p.ARG502TRP | LEOPARD syndrome 1 (LEOPARD1) | Swiss-Prot | VAR_015619 | Disease | p.ASN308ASP | Noonan syndrome 1 (NS1) | Swiss-Prot | VAR_027184 | Disease | p.ASN58LYS | Noonan syndrome 1 (NS1) | Swiss-Prot | VAR_015618 | Disease | p.ASN308SER | Noonan syndrome 1 (NS1) | Swiss-Prot | VAR_015612 | Disease | p.ASP106ALA | Noonan syndrome 1 (NS1) | Swiss-Prot | VAR_015604 | Disease | p.ASP61ASN | Noonan syndrome 1 (NS1) | Swiss-Prot | VAR_015603 | Disease | p.ASP61GLY | Noonan syndrome 1 (NS1) | Swiss-Prot | VAR_015992 | Disease | p.ASP61TYR | Leukemia, juvenile myelomonocytic (JMML) | Swiss-Prot | VAR_015991 | Disease | p.ASP61VAL | Leukemia, juvenile myelomonocytic (JMML) | Swiss-Prot | VAR_027187 | Disease | p.GLN256ARG | Noonan syndrome 1 (NS1) | Swiss-Prot | VAR_027195 | Disease | p.GLN510ARG | Noonan syndrome 1 (NS1) | Swiss-Prot | VAR_015611 | Disease | p.GLN79ARG | Noonan syndrome 1 (NS1) | Swiss-Prot | VAR_027194 | Disease | p.GLN510PRO | LEOPARD syndrome 1 (LEOPARD1) | Swiss-Prot | VAR_027196 | Disease | p.GLN514PRO | LEOPARD syndrome 1 (LEOPARD1) | Swiss-Prot | VAR_027186 | Disease | p.GLN79PRO | Noonan syndrome 1 (NS1) | Swiss-Prot | VAR_015998 | Disease | p.GLU76ALA | Leukemia, juvenile myelomonocytic (JMML) | Swiss-Prot | VAR_015613 | Disease | p.GLU139ASP | Noonan syndrome 1 (NS1) | Swiss-Prot | VAR_015610 | Disease | p.GLU76ASP | Noonan syndrome 1 (NS1) | Swiss-Prot | VAR_027185 | Disease | p.GLU69GLN | Noonan syndrome 1 (NS1) | Swiss-Prot | VAR_015999 | Disease | p.GLU76GLY | Leukemia, juvenile myelomonocytic (JMML) | Swiss-Prot | VAR_015993 | Disease | p.GLU69LYS | Leukemia, juvenile myelomonocytic (JMML) | Swiss-Prot | VAR_016000 | Disease | p.GLU76LYS | Leukemia, juvenile myelomonocytic (JMML) | Swiss-Prot | VAR_016001 | Disease | p.GLU76VAL | Leukemia, juvenile myelomonocytic (JMML) | Swiss-Prot | VAR_027191 | Disease | p.GLY468ALA | LEOPARD syndrome 1 (LEOPARD1) | Swiss-Prot | VAR_016002 | Disease | p.GLY507ALA | Leukemia, juvenile myelomonocytic (JMML) | Swiss-Prot | VAR_015602 | Disease | p.GLY60ALA | Noonan syndrome 1 (NS1) | Swiss-Prot | VAR_016003 | Polymorphism | p.GLY507ARG | N/A | Swiss-Prot | VAR_015990 | Polymorphism | p.GLY60VAL | N/A | Swiss-Prot | VAR_015615 | Disease | p.ILE282VAL | Noonan syndrome 1 (NS1) | Swiss-Prot | VAR_015620 | Disease | p.ILE309VAL | Noonan syndrome 1 (NS1) | Swiss-Prot | VAR_027197 | Disease | p.LEU564PHE | Noonan syndrome 1 (NS1) | Swiss-Prot | VAR_015624 | Disease | p.MET508VAL | Noonan syndrome 1 (NS1) | Swiss-Prot | VAR_015617 | Disease | p.PHE285LEU | Noonan syndrome 1 (NS1) | Swiss-Prot | VAR_015995 | Polymorphism | p.PHE71LEU | N/A | Swiss-Prot | VAR_015994 | Polymorphism | p.PHE71LYS | N/A | Swiss-Prot | VAR_015616 | Disease | p.PHE285SER | Noonan syndrome 1 (NS1) | Swiss-Prot | VAR_015623 | Disease | p.SER506THR | Noonan syndrome 1 (NS1) | Swiss-Prot | VAR_015601 | Disease | p.THR42ALA | Noonan syndrome 1 (NS1) | Swiss-Prot | VAR_066060 | Disease | p.THR59ALA | Noonan syndrome 1 (NS1) | Swiss-Prot | VAR_027183 | Disease | p.THR2ILE | Noonan syndrome 1 (NS1) | Swiss-Prot | VAR_015609 | Disease | p.THR73ILE | Noonan syndrome 1 (NS1) | Swiss-Prot | VAR_027189 | Disease | p.THR415MET | Noonan syndrome 1 (NS1) | Swiss-Prot | VAR_015621 | Disease | p.THR472MET | LEOPARD syndrome 1 (LEOPARD1) | Swiss-Prot | VAR_015605 | Disease | p.TYR62ASP | Noonan syndrome 1 (NS1) | Swiss-Prot | VAR_015614 | Disease | p.TYR279CYS | Noonan syndrome 1 (NS1) | Swiss-Prot | VAR_015606 | Disease | p.TYR63CYS | Noonan syndrome 1 (NS1) | Swiss-Prot | VAR_027188 | Disease | p.TYR279SER | LEOPARD syndrome 1 (LEOPARD1) |
Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.
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