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Known Diseases associated with this Protein: |  HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
| HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY (HMAHCHD)
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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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| Swiss-Prot | VAR_058590 | Disease | p.ALA89VAL | Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) | | Swiss-Prot | VAR_058588 | Disease | p.ARG49CYS | Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) | | Swiss-Prot | VAR_052286 | Polymorphism | p.ARG38TRP | N/A | | Swiss-Prot | VAR_006934 | Polymorphism | p.ASP86ASN | N/A | | Swiss-Prot | VAR_058589 | Disease | p.ASP86GLY | Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) | | Swiss-Prot | VAR_058591 | Disease | p.TYR143CYS | Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) | | OMIM | 180960.0001 | Disease | p.TRP112TER | HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY | | OMIM | 180960.0002 | Disease | p.TYR143CYS | HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY |
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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20141702
SAHH_HUMAN RecName: Full=Adenosylhomocysteinase; Short=AdoHcyase; AltName: Full=S-adenosyl-L-homocysteine hydrolase
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