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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_025992 | Disease | p.GLY23VAL | Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type (THMD2) | | Swiss-Prot | VAR_025993 | Disease | p.THR422ALA | Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type (THMD2) | | dbSNP | rs34507036 | Polymorphism | p.VAL350ALA | N/A | | dbSNP | rs59736804 | Polymorphism | p.VAL174ILE | N/A | | OMIM | 606152.0004 | Disease | p.GLU320GLN | THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE||TYPE) | | OMIM | 606152.0001 | Disease | p.GLY23VAL | THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE||TYPE) | | OMIM | 606152.0003 | Disease | p.LYS44GLU | THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE||TYPE) | | OMIM | 606152.0002 | Disease | p.THR422ALA | THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE||TYPE) |
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 |
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74733486
S19A3_HUMAN RecName: Full=Thiamine transporter 2; Short=ThTr-2; Short=ThTr2; AltName: Full=Solute carrier family 19 member 3
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