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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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| Swiss-Prot | VAR_067915 | Disease | p.ALA110PRO | Congenital cataracts, hearing loss, and neurodegeneration (CCHLND) | | dbSNP | rs3804769 | Polymorphism | p.ASP171GLY | N/A | | Swiss-Prot | VAR_054850 | Disease | p.SER113ARG | Spastic paraplegia 42, autosomal dominant (SPG42) | | Swiss-Prot | VAR_035776 | Polymorphism | p.VAL400ALA | N/A | | OMIM | 603690.0002 | Disease | p.ALA110PRO | CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION | | OMIM | 603690.0001 | Disease | p.SER113ARG | SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT | | OMIM | 603690.0004 | Disease | p.TYR366TER | CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION |
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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74735319
ACATN_HUMAN RecName: Full=Acetyl-coenzyme A transporter 1; Short=AT-1; Short=Acetyl-CoA transporter 1; AltName: Full=Solute carrier family 33 member 1
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