|
|
|
|
Known Diseases associated with this Protein: | PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
| PANCREATITIS, HEREDITARY (PCTT)
|
| | 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. |
---|
Default View:
| |
---|
Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_070540 | Polymorphism | p.ALA257THR | N/A | Swiss-Prot | VAR_043520 | Disease | p.ALA73THR | Pancreatitis, hereditary (PCTT) | Swiss-Prot | VAR_070535 | Polymorphism | p.ARG246CYS | N/A | Swiss-Prot | VAR_070539 | Polymorphism | p.ARG254GLN | N/A | Swiss-Prot | VAR_070521 | Polymorphism | p.ARG29GLN | N/A | Swiss-Prot | VAR_043518 | Polymorphism | p.ARG37GLN | N/A | Swiss-Prot | VAR_070527 | Polymorphism | p.ARG162HIS | N/A | Swiss-Prot | VAR_043529 | Disease | p.ARG254TRP | Pancreatitis, hereditary (PCTT) | Swiss-Prot | VAR_010928 | Polymorphism | p.ARG80TRP | N/A | Swiss-Prot | VAR_070541 | Polymorphism | p.ASN263SER | N/A | Swiss-Prot | VAR_043530 | Polymorphism | p.ASP260ASN | N/A | Swiss-Prot | VAR_043517 | Polymorphism | p.ASP35ASN | N/A | Swiss-Prot | VAR_043516 | Polymorphism | p.ASP35HIS | N/A | Swiss-Prot | VAR_070523 | Polymorphism | p.ASP35TYR | N/A | Swiss-Prot | VAR_070526 | Disease | p.CYS155TYR | Pancreatitis, hereditary (PCTT) | Swiss-Prot | VAR_070528 | Disease | p.GLN178ARG | Pancreatitis, hereditary (PCTT) | Swiss-Prot | VAR_043519 | Polymorphism | p.GLN48ARG | N/A | Swiss-Prot | VAR_043526 | Polymorphism | p.GLU225ALA | N/A | Swiss-Prot | VAR_070531 | Polymorphism | p.GLU225LYS | N/A | Swiss-Prot | VAR_070520 | Polymorphism | p.GLY18ARG | N/A | Swiss-Prot | VAR_043522 | Disease | p.GLY217ARG | Pancreatitis, hereditary (PCTT) | Swiss-Prot | VAR_070524 | Polymorphism | p.GLY61ARG | N/A | Swiss-Prot | VAR_043523 | Disease | p.GLY217SER | Pancreatitis, hereditary (PCTT) | Swiss-Prot | VAR_043524 | Polymorphism | p.GLY218SER | N/A | Swiss-Prot | VAR_070532 | Polymorphism | p.GLY227SER | N/A | Swiss-Prot | VAR_070522 | Disease | p.GLY32VAL | Pancreatitis, hereditary (PCTT) | Swiss-Prot | VAR_070530 | Polymorphism | p.ILE209MET | N/A | Swiss-Prot | VAR_043525 | Polymorphism | p.LEU220ARG | N/A | Swiss-Prot | VAR_070525 | Polymorphism | p.LYS151ASN | N/A | dbSNP | rs34949635 | Polymorphism | p.LYS172GLU | N/A | Swiss-Prot | VAR_070537 | Polymorphism | p.LYS247GLU | N/A | Swiss-Prot | VAR_070529 | Polymorphism | p.MET200VAL | N/A | Swiss-Prot | VAR_043528 | Disease | p.PRO249LEU | Pancreatitis, hereditary (PCTT) | Swiss-Prot | VAR_070533 | Polymorphism | p.SER239ALA | N/A | Swiss-Prot | VAR_070534 | Polymorphism | p.SER239CYS | N/A | Swiss-Prot | VAR_070538 | Disease | p.VAL250GLU | Pancreatitis, hereditary (PCTT) | Swiss-Prot | VAR_043527 | Disease | p.VAL235ILE | Pancreatitis, hereditary (PCTT) | OMIM | 601405.0001 | Disease | p.ARG254TRP | PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO | OMIM | 601405.0003 | Disease | p.TRP55TER | PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO |
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.
DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
|