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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_018684 | Disease | p.ARG39CYS | Salla disease (SD) | | Swiss-Prot | VAR_018689 | Disease | p.GLY371VAL | Infantile sialic acid storage disorder (ISSD) | | Swiss-Prot | VAR_018686 | Disease | p.HIS183ARG | Infantile sialic acid storage disorder (ISSD) | | Swiss-Prot | VAR_018685 | Disease | p.LYS136GLU | Salla disease (SD) | | Swiss-Prot | VAR_018688 | Disease | p.PRO334ARG | Infantile sialic acid storage disorder (ISSD) | | dbSNP | rs16883930 | Polymorphism | p.VAL296ILE | N/A | | OMIM | 604322.0001 | Disease | p.ARG39CYS | SALLA DISEASE | | OMIM | 604322.0004 | Disease | p.HIS183ARG | INFANTILE SIALIC ACID STORAGE DISORDER | | OMIM | 604322.0009 | Disease | p.LYS136GLU | SALLA DISEASE | | OMIM | 604322.0005 | Disease | p.PRO334ARG | INFANTILE SIALIC ACID STORAGE DISORDER |
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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48428688
S17A5_HUMAN RecName: Full=Sialin; AltName: Full=H(+)/nitrate cotransporter; AltName: Full=H(+)/sialic acid cotransporter; Short=AST; AltName: Full=Membrane glycoprotein HP59; AltName: Full=Solute carrier family 17 member 5; AltName: Full=Vesicular H(+)/Aspartate-glutamate cotransporter
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