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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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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs26722 | Polymorphism | p.GLU272LYS | N/A | | dbSNP | rs16891982 | Polymorphism | p.LEU374PHE | N/A | | OMIM | 606202.0005 | Disease | p.ALA486VAL | OCULOCUTANEOUS ALBINISM, TYPE IV | | OMIM | 606202.0006 | Disease | p.ASP157ASN | OCULOCUTANEOUS ALBINISM, TYPE IV | | OMIM | 606202.0007 | Disease | p.GLU272LYS | SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR||SKIN/HAIR/EYE PIGMENTATION 5, DARK/FAIR SKIN, INCLUDED;;||SKIN/HAIR/E | | OMIM | 606202.0002 | Disease | p.LEU361PRO | OCULOCUTANEOUS ALBINISM, TYPE IV | | OMIM | 606202.0008 | Disease | p.PHE374LEU | SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR||SKIN/HAIR/EYE PIGMENTATION 5, DARK/FAIR SKIN, INCLUDED;;||SKIN/HAIR/E |
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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61635915
membrane-associated transporter protein isoform a [Homo sapiens]
5
2
5
2
0
