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Known Diseases associated with this Protein: |  HARTNUP DISORDER
| HARTNUP DISORDER (HND)
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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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 Default View:
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Domains found on the Protein | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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| SNF | pfam00209 | 1.3e-217 | 32 | 608 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_023314 | Disease | p.ARG57CYS | Hartnup disorder (HND) | | Swiss-Prot | VAR_023316 | Polymorphism | p.ARG240GLN | N/A | | Swiss-Prot | VAR_023315 | Disease | p.ASP173ASN | Hartnup disorder (HND) | | Swiss-Prot | VAR_023319 | Disease | p.GLU501LYS | Hartnup disorder (HND) | | Swiss-Prot | VAR_023317 | Disease | p.LEU242PRO | Hartnup disorder (HND) | | dbSNP | rs7732589 | Polymorphism | p.VAL252ILE | N/A | | OMIM | 608893.0003 | Disease | p.ASP173ASN | HARTNUP DISORDER |
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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73919285
S6A19_HUMAN RecName: Full=Sodium-dependent neutral amino acid transporter B(0)AT1; AltName: Full=Solute carrier family 6 member 19; AltName: Full=System B(0) neutral amino acid transporter AT1
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