Known Diseases associated with this Protein: |  HYPERGLYCINURIA
| IMINOGLYCINURIA, DIGENIC, INCLUDED
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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 | 7.1e-211 | 5 | 581 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs2271615 | Polymorphism | p.ALA9GLY | N/A | | Swiss-Prot | VAR_052068 | Polymorphism | p.THR199MET | N/A | | OMIM | 605616.0001 | Disease | p.THR199MET | HYPERGLYCINURIA||IMINOGLYCINURIA, DIGENIC, INCLUDED |
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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46397768
S6A20_HUMAN RecName: Full=Sodium- and chloride-dependent transporter XTRP3; AltName: Full=Sodium/imino-acid transporter 1; AltName: Full=Solute carrier family 6 member 20; AltName: Full=Transporter rB21A homolog
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