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Known Diseases associated with this Protein: |  HYPOPHOSPHATASIA, ADULT
| HYPOPHOSPHATASIA, ADULT, INCLUDED
| HYPOPHOSPHATASIA, ADULT, INCLUDED;;
| HYPOPHOSPHATASIA, CHILDHOOD
| HYPOPHOSPHATASIA, CHILDHOOD, INCLUDED
| HYPOPHOSPHATASIA, CHILDHOOD, INCLUDED;;
| HYPOPHOSPHATASIA, INFANTILE
| ODONTOHYPOPHOSPHATASIA
| ODONTOHYPOPHOSPHATASIA, 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 Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs3200254 | Polymorphism | p.TYR208HIS | N/A | | dbSNP | rs34605986 | Polymorphism | p.VAL467ALA | N/A | | OMIM | 171760.0001 | Disease | p.ALA107THR | HYPOPHOSPHATASIA, INFANTILE | | OMIM | 171760.0022 | Disease | p.ALA121THR | HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD, INCLUDED | | OMIM | 171760.0015 | Disease | p.ALA44THR | HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT, INCLUDED;;||ODONTOHYPOPHOSPHATASIA, INCLUDED | | OMIM | 171760.0023 | Disease | p.ARG217CYS | HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD, INCLUDED | | OMIM | 171760.0013 | Disease | p.ARG64HIS | HYPOPHOSPHATASIA, CHILDHOOD | | OMIM | 171760.0017 | Disease | p.ASN345SER | HYPOPHOSPHATASIA, INFANTILE | | OMIM | 171760.0003 | Disease | p.ASP222ALA | HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD, INCLUDED;;||HYPOPHOSPHATASIA, ADULT, INCLUDED | | OMIM | 171760.0009 | Disease | p.ASP323VAL | HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, ADULT, INCLUDED | | OMIM | 171760.0005 | Disease | p.GLN135PRO | HYPOPHOSPHATASIA, INFANTILE | | OMIM | 171760.0008 | Disease | p.GLU119LYS | HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD, INCLUDED;;||HYPOPHOSPHATASIA, ADULT | | OMIM | 171760.0020 | Disease | p.GLU226LYS | HYPOPHOSPHATASIA, INFANTILE | | OMIM | 171760.0019 | Disease | p.GLY384ARG | HYPOPHOSPHATASIA, INFANTILE | | OMIM | 171760.0010 | Disease | p.GLY262ASP | HYPOPHOSPHATASIA, INFANTILE | | OMIM | 171760.0021 | Disease | p.GLY177VAL | HYPOPHOSPHATASIA, CHILDHOOD||ODONTOHYPOPHOSPHATASIA, INCLUDED | | OMIM | 171760.0014 | Disease | p.GLY90VAL | HYPOPHOSPHATASIA, CHILDHOOD | | OMIM | 171760.0011 | Disease | p.PHE255LEU | HYPOPHOSPHATASIA, INFANTILE | | OMIM | 171760.0018 | Disease | p.PRO36LEU | ODONTOHYPOPHOSPHATASIA | | OMIM | 171760.0007 | Disease | p.TYR364HIS | HYPOPHOSPHATASIA, INFANTILE |
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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294660770
alkaline phosphatase, tissue-nonspecific isozyme isoform 2 [Homo sapiens]
18
2
18
2
0
