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Known Diseases associated with this Protein: |  HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
| HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE (ARH)
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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_023320 | Disease | p.SER202HIS | Hypercholesterolemia, autosomal recessive (ARH) | | dbSNP | rs6687605 | Polymorphism | p.SER202PRO | N/A | | OMIM | 605747.0003 | Disease | p.GLN136TER | HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE | | OMIM | 605747.0004 | Disease | p.PRO202HIS | HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE | | OMIM | 605747.0001 | Disease | p.TRP22TER | HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE |
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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116241254
ARH_HUMAN RecName: Full=Low density lipoprotein receptor adapter protein 1; AltName: Full=Autosomal recessive hypercholesterolemia protein
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