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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_014291 | Polymorphism | p.ALA215THR | N/A | Swiss-Prot | VAR_000522 | Polymorphism | p.ALA344THR | N/A | Swiss-Prot | VAR_014292 | Polymorphism | p.ALA215VAL | N/A | Swiss-Prot | VAR_000499 | Polymorphism | p.ARG23CYS | N/A | Swiss-Prot | VAR_013017 | Polymorphism | p.ARG434CYS | N/A | Swiss-Prot | VAR_000503 | Polymorphism | p.ARG24GLN | N/A | Swiss-Prot | VAR_000510 | Polymorphism | p.ARG138GLY | N/A | Swiss-Prot | VAR_000500 | Polymorphism | p.ARG23HIS | N/A | Swiss-Prot | VAR_000514 | Disease | p.ARG242HIS | Dysalbuminemic hyperthyroxinemia (DH) | Swiss-Prot | VAR_000501 | Polymorphism | p.ARG24LEU | N/A | Swiss-Prot | VAR_000502 | Polymorphism | p.ARG24PRO | N/A | Swiss-Prot | VAR_013013 | Disease | p.ARG242PRO | Dysalbuminemic hyperthyroxinemia (DH) | Swiss-Prot | VAR_000521 | Polymorphism | p.ASN342LYS | N/A | Swiss-Prot | VAR_000541 | Polymorphism | p.ASP574ALA | N/A | Swiss-Prot | VAR_000530 | Polymorphism | p.ASP399ASN | N/A | Swiss-Prot | VAR_000535 | Polymorphism | p.ASP518ASN | N/A | Swiss-Prot | VAR_000542 | Polymorphism | p.ASP587ASN | N/A | Swiss-Prot | VAR_000508 | Polymorphism | p.ASP87ASN | N/A | Swiss-Prot | VAR_000518 | Polymorphism | p.ASP293GLY | N/A | Swiss-Prot | VAR_013014 | Polymorphism | p.ASP338GLY | N/A | Swiss-Prot | VAR_000540 | Polymorphism | p.ASP574GLY | N/A | Swiss-Prot | VAR_000527 | Polymorphism | p.ASP389HIS | N/A | Swiss-Prot | VAR_000504 | Polymorphism | p.ASP25VAL | N/A | Swiss-Prot | VAR_013015 | Polymorphism | p.ASP338VAL | N/A | Swiss-Prot | VAR_000528 | Polymorphism | p.ASP389VAL | N/A | Swiss-Prot | VAR_000513 | Polymorphism | p.CYS201PHE | N/A | Swiss-Prot | VAR_000517 | Polymorphism | p.GLN292ARG | N/A | Swiss-Prot | VAR_014293 | Polymorphism | p.GLN220LEU | N/A | Swiss-Prot | VAR_000532 | Polymorphism | p.GLU400GLN | N/A | Swiss-Prot | VAR_014290 | Polymorphism | p.GLU121GLY | N/A | Swiss-Prot | VAR_000509 | Polymorphism | p.GLU106LYS | N/A | Swiss-Prot | VAR_000511 | Polymorphism | p.GLU143LYS | N/A | Swiss-Prot | VAR_000523 | Polymorphism | p.GLU345LYS | N/A | Swiss-Prot | VAR_000524 | Polymorphism | p.GLU357LYS | N/A | Swiss-Prot | VAR_000525 | Polymorphism | p.GLU378LYS | N/A | Swiss-Prot | VAR_000526 | Polymorphism | p.GLU382LYS | N/A | Swiss-Prot | VAR_000531 | Polymorphism | p.GLU400LYS | N/A | Swiss-Prot | VAR_000533 | Polymorphism | p.GLU406LYS | N/A | Swiss-Prot | VAR_014294 | Polymorphism | p.GLU420LYS | N/A | Swiss-Prot | VAR_000534 | Polymorphism | p.GLU503LYS | N/A | Swiss-Prot | VAR_000536 | Polymorphism | p.GLU525LYS | N/A | Swiss-Prot | VAR_000537 | Polymorphism | p.GLU529LYS | N/A | Swiss-Prot | VAR_000543 | Polymorphism | p.GLU589LYS | N/A | Swiss-Prot | VAR_000544 | Polymorphism | p.GLU594LYS | N/A | Swiss-Prot | VAR_000507 | Polymorphism | p.GLU84LYS | N/A | Swiss-Prot | VAR_000512 | Polymorphism | p.HIS152ARG | N/A | Swiss-Prot | VAR_000505 | Polymorphism | p.HIS27GLN | N/A | Swiss-Prot | VAR_000506 | Polymorphism | p.HIS27TYR | N/A | Swiss-Prot | VAR_013011 | Disease | p.LEU90PRO | Dysalbuminemic hyperthyroxinemia (DH) | Swiss-Prot | VAR_000519 | Polymorphism | p.LYS300ASN | N/A | Swiss-Prot | VAR_000520 | Polymorphism | p.LYS337ASN | N/A | Swiss-Prot | VAR_013016 | Polymorphism | p.LYS383ASN | N/A | Swiss-Prot | VAR_000546 | Polymorphism | p.LYS598ASN | N/A | Swiss-Prot | VAR_000515 | Polymorphism | p.LYS249GLN | N/A | Swiss-Prot | VAR_000516 | Polymorphism | p.LYS264GLU | N/A | Swiss-Prot | VAR_000529 | Polymorphism | p.LYS396GLU | N/A | Swiss-Prot | VAR_014295 | Polymorphism | p.LYS490GLU | N/A | Swiss-Prot | VAR_000538 | Polymorphism | p.LYS560GLU | N/A | Swiss-Prot | VAR_000539 | Polymorphism | p.LYS565GLU | N/A | Swiss-Prot | VAR_013019 | Polymorphism | p.LYS584GLU | N/A | Swiss-Prot | VAR_000545 | Polymorphism | p.LYS597GLU | N/A | Swiss-Prot | VAR_010657 | Polymorphism | p.PHE73TYR | N/A | Swiss-Prot | VAR_013012 | Polymorphism | p.VAL146GLU | N/A | Swiss-Prot | VAR_013018 | Polymorphism | p.VAL557MET | N/A | OMIM | 103600.0010 | Disease | p.ALA320THR | ALBUMIN REDHILL | OMIM | 103600.0006 | Disease | p.ARG114GLY | ALBUMIN YANOMAMA 2 | OMIM | 103600.0041 | Disease | p.ARG218HIS | DYSALBUMINEMIC HYPERTHYROXINEMIA | OMIM | 103600.0055 | Disease | p.ARG218PRO | DYSALBUMINEMIC HYPERTHYROXINEMIA | OMIM | 103600.0050 | Disease | p.ASN318LYS | ALBUMIN MALMO 47 | OMIM | 103600.0016 | Disease | p.ASP375ASN | ALBUMIN NAGASAKI 2 | OMIM | 103600.0035 | Disease | p.ASP494ASN | ALBUMIN CASEBROOK | OMIM | 103600.0022 | Disease | p.ASP563ASN | ALBUMIN FUKUOKA 1 | OMIM | 103600.0047 | Disease | p.ASP63ASN | ALBUMIN MALMO 95 | OMIM | 103600.0008 | Disease | p.ASP269GLY | ALBUMIN NAGASAKI 1||ALBUMIN NIIGATA | OMIM | 103600.0021 | Disease | p.ASP550GLY | ALBUMIN MEXICO 2 | OMIM | 103600.0014 | Disease | p.ASP365HIS | ALBUMIN PARKLANDS | OMIM | 103600.0004 | Disease | p.ASP1VAL | ALBUMIN BREMEN||ALBUMIN BLENHEIM;;||ALBUMIN IOWA CITY 2 | OMIM | 103600.0036 | Disease | p.ASP365VAL | ALBUMIN IOWA CITY 1 | OMIM | 103600.0048 | Disease | p.CYS177PHE | ALBUMIN HAWKES BAY | OMIM | 103600.0049 | Disease | p.GLN268ARG | ALBUMIN MALMO 10 | OMIM | 103600.0032 | Disease | p.GLN580LYS | ALBUMIN GE/CT||ALBUMIN CATANIA | OMIM | 103600.0052 | Disease | p.GLU376ASN | ALBUMIN MALMO 5 | OMIM | 103600.0007 | Disease | p.GLU119LYS | ALBUMIN NAGOYA | OMIM | 103600.0011 | Disease | p.GLU321LYS | ALBUMIN ROMA | OMIM | 103600.0051 | Disease | p.GLU333LYS | ALBUMIN SONDRIA | OMIM | 103600.0012 | Disease | p.GLU354LYS | ALBUMIN HIROSHIMA 1 | OMIM | 103600.0013 | Disease | p.GLU358LYS | ALBUMIN PORTO ALEGRE 1||ALBUMIN COARI 1 | OMIM | 103600.0017 | Disease | p.GLU376LYS | ALBUMIN TOCHIGI | OMIM | 103600.0018 | Disease | p.GLU382LYS | ALBUMIN HIROSHIMA 2 | OMIM | 103600.0053 | Disease | p.GLU479LYS | ALBUMIN DUBLIN | OMIM | 103600.0019 | Disease | p.GLU501LYS | ALBUMIN LAMBADI||ALBUMIN MANAUS-1;;||ALBUMIN VANCOUVER;;||ALBUMIN BIRMINGHAM;;||ALBUMIN ADANA;;||ALBUMIN PORTO ALEGRE 2 | OMIM | 103600.0054 | Disease | p.GLU505LYS | ALBUMIN ORTONOVO | OMIM | 103600.0023 | Disease | p.GLU565LYS | ALBUMIN OSAKA 1 | OMIM | 103600.0024 | Disease | p.GLU570LYS | ALBUMIN OSAKA 2||ALBUMIN PHNOM PENH;;||ALBUMIN B;;||ALBUMIN OLIPHANT;;||ALBUMIN NAGANO;;||ALBUMIN VERONA B | OMIM | 103600.0033 | Disease | p.GLU60LYS | ALBUMIN TORINO | OMIM | 103600.0034 | Disease | p.GLU82LYS | ALBUMIN VIBO VALENTIA | OMIM | 103600.0037 | Disease | p.HIS128ARG | ALBUMIN KOMAGOME 2 | OMIM | 103600.0005 | Disease | p.HIS3GLN | ALBUMIN NAGASAKI 3 | OMIM | 103600.0042 | Disease | p.HIS3TYR | ALBUMIN LARINO | OMIM | 103600.0056 | Disease | p.LEU66PRO | DYSALBUMINEMIC HYPERTHYROXINEMIA | OMIM | 103600.0044 | Disease | p.LYS276ASN | ALBUMIN CASERTA | OMIM | 103600.0009 | Disease | p.LYS313ASN | ALBUMIN NEW GUINEA||ALBUMIN TAGLIACOZZO;;||ALBUMIN COOPERSTOWN | OMIM | 103600.0026 | Disease | p.LYS574ASN | ALBUMIN VANVES | OMIM | 103600.0043 | Disease | p.LYS225GLN | ALBUMIN TRADATE 2 | OMIM | 103600.0039 | Disease | p.LYS240GLU | ALBUMIN HERBORN | OMIM | 103600.0015 | Disease | p.LYS372GLU | ALBUMIN MERSIN||ALBUMIN NASKAPI;;||ALBUMIN MEXICO 1 | OMIM | 103600.0029 | Disease | p.LYS536GLU | ALBUMIN CASTEL DI SANGRO | OMIM | 103600.0020 | Disease | p.LYS541GLU | ALBUMIN MAKU||ALBUMIN ORIXIMINA-1 | OMIM | 103600.0025 | Disease | p.LYS573GLU | ALBUMIN GHENT||ALBUMIN MILANO FAST | OMIM | 103600.0046 | Disease | p.TYR140CYS | ALBUMIN ASOLA |
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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