Known Diseases associated with this Protein: | INTESTINAL ATRESIA, MULTIPLE
| INTESTINAL ATRESIA, MULTIPLE (MINAT)
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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_069636 | Disease | p.LEU823PRO | Intestinal atresia, multiple (MINAT) | dbSNP | rs6755258 | Polymorphism | p.VAL545ILE | N/A | dbSNP | rs2304290 | Polymorphism | p.VAL538LEU | N/A | OMIM | 609332.0002 | Disease | p.LEU823PRO | INTESTINAL ATRESIA, MULTIPLE |
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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