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Known Diseases associated with this Protein: |  HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
| HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (HPMRS1)
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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_064191 | Disease | p.ALA341GLU | Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1) | | Swiss-Prot | VAR_064192 | Disease | p.ALA341VAL | Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1) | | Swiss-Prot | VAR_064190 | Disease | p.GLN256LYS | Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1) | | Swiss-Prot | VAR_064193 | Disease | p.HIS385PRO | Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1) | | OMIM | 610274.0001 | Disease | p.ALA341GLU | HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 | | OMIM | 610274.0004 | Disease | p.ALA341VAL | HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 | | OMIM | 610274.0005 | Disease | p.CYS156TYR | HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 | | OMIM | 610274.0003 | Disease | p.GLN256LYS | HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 | | OMIM | 610274.0002 | Disease | p.HIS385PRO | HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 |
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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74752975
PIGV_HUMAN RecName: Full=GPI mannosyltransferase 2; AltName: Full=GPI mannosyltransferase II; Short=GPI-MT-II; AltName: Full=Phosphatidylinositol-glycan biosynthesis class V protein; Short=PIG-V
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