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Known Diseases associated with this Protein: | GALACTOSEMIA
| GALACTOSEMIA (GALCT)
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_068555 | Disease | p.ALA345ASP | Galactosemia (GALCT) | Swiss-Prot | VAR_002593 | Disease | p.ALA199THR | Galactosemia (GALCT) | Swiss-Prot | VAR_002617 | Disease | p.ALA320THR | Galactosemia (GALCT) | Swiss-Prot | VAR_002558 | Disease | p.ALA81THR | Galactosemia (GALCT) | Swiss-Prot | VAR_002624 | Disease | p.ALA330VAL | Galactosemia (GALCT) | Swiss-Prot | VAR_068544 | Disease | p.ARG201CYS | Galactosemia (GALCT) | Swiss-Prot | VAR_002605 | Disease | p.ARG258CYS | Galactosemia (GALCT) | Swiss-Prot | VAR_002556 | Disease | p.ARG67CYS | Galactosemia (GALCT) | Swiss-Prot | VAR_002566 | Disease | p.ARG123GLN | Galactosemia (GALCT) | Swiss-Prot | VAR_002578 | Disease | p.ARG148GLN | Galactosemia (GALCT) | Swiss-Prot | VAR_068548 | Disease | p.ARG259GLN | Galactosemia (GALCT) | Swiss-Prot | VAR_002626 | Disease | p.ARG333GLN | Galactosemia (GALCT) | Swiss-Prot | VAR_023328 | Disease | p.ARG51GLN | Galactosemia (GALCT) | Swiss-Prot | VAR_002565 | Disease | p.ARG123GLY | Galactosemia (GALCT) | Swiss-Prot | VAR_002577 | Disease | p.ARG148GLY | Galactosemia (GALCT) | Swiss-Prot | VAR_008047 | Disease | p.ARG272GLY | Galactosemia (GALCT) | Swiss-Prot | VAR_002625 | Disease | p.ARG333GLY | Galactosemia (GALCT) | Swiss-Prot | VAR_002594 | Disease | p.ARG201HIS | Galactosemia (GALCT) | Swiss-Prot | VAR_002601 | Disease | p.ARG231HIS | Galactosemia (GALCT) | Swiss-Prot | VAR_002622 | Disease | p.ARG328HIS | Galactosemia (GALCT) | Swiss-Prot | VAR_068534 | Disease | p.ARG33HIS | Galactosemia (GALCT) | Swiss-Prot | VAR_068830 | Disease | p.ARG333LEU | Galactosemia (GALCT) | Swiss-Prot | VAR_002553 | Disease | p.ARG51LEU | Galactosemia (GALCT) | Swiss-Prot | VAR_008045 | Disease | p.ARG204PRO | Galactosemia (GALCT) | Swiss-Prot | VAR_002607 | Disease | p.ARG262PRO | Galactosemia (GALCT) | Swiss-Prot | VAR_068546 | Disease | p.ARG223SER | Galactosemia (GALCT) | Swiss-Prot | VAR_002579 | Disease | p.ARG148TRP | Galactosemia (GALCT) | Swiss-Prot | VAR_002606 | Disease | p.ARG259TRP | Galactosemia (GALCT) | Swiss-Prot | VAR_002627 | Disease | p.ARG333TRP | Galactosemia (GALCT) | dbSNP | rs2070074 | Polymorphism | p.ASN314ASP | N/A | Swiss-Prot | VAR_002559 | Disease | p.ASN97SER | Galactosemia (GALCT) | Swiss-Prot | VAR_002561 | Disease | p.ASP113ASN | Galactosemia (GALCT) | Swiss-Prot | VAR_002560 | Disease | p.ASP98ASN | Galactosemia (GALCT) | Swiss-Prot | VAR_068533 | Disease | p.ASP28HIS | Galactosemia (GALCT) | Swiss-Prot | VAR_002548 | Disease | p.ASP28TYR | Galactosemia (GALCT) | Swiss-Prot | VAR_002569 | Disease | p.CYS130TYR | Galactosemia (GALCT) | Swiss-Prot | VAR_068825 | Disease | p.GLN103ARG | Galactosemia (GALCT) | Swiss-Prot | VAR_002587 | Disease | p.GLN188ARG | Galactosemia (GALCT) | Swiss-Prot | VAR_002615 | Disease | p.GLN317ARG | Galactosemia (GALCT) | Swiss-Prot | VAR_002564 | Disease | p.GLN118HIS | Galactosemia (GALCT) | Swiss-Prot | VAR_002598 | Disease | p.GLN212HIS | Galactosemia (GALCT) | Swiss-Prot | VAR_023331 | Disease | p.GLN252HIS | Galactosemia (GALCT) | Swiss-Prot | VAR_002614 | Disease | p.GLN317HIS | Galactosemia (GALCT) | Swiss-Prot | VAR_068531 | Disease | p.GLN9HIS | Galactosemia (GALCT) | Swiss-Prot | VAR_002630 | Disease | p.GLN344LYS | Galactosemia (GALCT) | Swiss-Prot | VAR_002550 | Disease | p.GLN38PRO | Galactosemia (GALCT) | Swiss-Prot | VAR_002595 | Disease | p.GLU203LYS | Galactosemia (GALCT) | Swiss-Prot | VAR_068545 | Disease | p.GLU220LYS | Galactosemia (GALCT) | Swiss-Prot | VAR_002611 | Disease | p.GLU291LYS | Galactosemia (GALCT) | Swiss-Prot | VAR_002612 | Disease | p.GLU308LYS | Galactosemia (GALCT) | Swiss-Prot | VAR_068552 | Disease | p.GLU291VAL | Galactosemia (GALCT) | Swiss-Prot | VAR_002584 | Disease | p.GLY179ASP | Galactosemia (GALCT) | Swiss-Prot | VAR_002554 | Disease | p.GLY55CYS | Galactosemia (GALCT) | Swiss-Prot | VAR_068537 | Disease | p.HIS132GLN | Galactosemia (GALCT) | Swiss-Prot | VAR_002586 | Disease | p.HIS184GLN | Galactosemia (GALCT) | Swiss-Prot | VAR_002616 | Disease | p.HIS319GLN | Galactosemia (GALCT) | Swiss-Prot | VAR_002562 | Disease | p.HIS114LEU | Galactosemia (GALCT) | Swiss-Prot | VAR_002570 | Disease | p.HIS132TYR | Galactosemia (GALCT) | Swiss-Prot | VAR_068550 | Disease | p.ILE278ASN | Galactosemia (GALCT) | Swiss-Prot | VAR_002549 | Disease | p.ILE32ASN | Galactosemia (GALCT) | Swiss-Prot | VAR_002591 | Disease | p.ILE198MET | Galactosemia (GALCT) | Swiss-Prot | VAR_068539 | Disease | p.ILE170THR | Galactosemia (GALCT) | Swiss-Prot | VAR_002592 | Disease | p.ILE198THR | Galactosemia (GALCT) | Swiss-Prot | VAR_002610 | Disease | p.LEU289ARG | Galactosemia (GALCT) | Swiss-Prot | VAR_068554 | Disease | p.LEU342ILE | Galactosemia (GALCT) | Swiss-Prot | VAR_002555 | Polymorphism | p.LEU62MET | N/A | Swiss-Prot | VAR_068551 | Disease | p.LEU289PHE | Galactosemia (GALCT) | Swiss-Prot | VAR_002573 | Disease | p.LEU139PRO | Galactosemia (GALCT) | Swiss-Prot | VAR_002590 | Disease | p.LEU195PRO | Galactosemia (GALCT) | Swiss-Prot | VAR_002599 | Disease | p.LEU217PRO | Galactosemia (GALCT) | Swiss-Prot | VAR_002600 | Disease | p.LEU226PRO | Galactosemia (GALCT) | Swiss-Prot | VAR_068547 | Disease | p.LEU227PRO | Galactosemia (GALCT) | Swiss-Prot | VAR_068553 | Disease | p.LEU327PRO | Galactosemia (GALCT) | Swiss-Prot | VAR_002557 | Disease | p.LEU74PRO | Galactosemia (GALCT) | dbSNP | rs2070075 | Polymorphism | p.LEU218VAL | N/A | Swiss-Prot | VAR_002608 | Disease | p.LEU282VAL | Galactosemia (GALCT) | Swiss-Prot | VAR_068829 | Disease | p.LYS285ARG | Galactosemia (GALCT) | Swiss-Prot | VAR_002628 | Disease | p.LYS334ARG | Galactosemia (GALCT) | Swiss-Prot | VAR_023330 | Disease | p.LYS229ASN | Galactosemia (GALCT) | Swiss-Prot | VAR_002609 | Disease | p.LYS285ASN | Galactosemia (GALCT) | Swiss-Prot | VAR_002568 | Disease | p.LYS127GLU | Galactosemia (GALCT) | Swiss-Prot | VAR_002629 | Disease | p.MET336LEU | Galactosemia (GALCT) | Swiss-Prot | VAR_002574 | Disease | p.MET142LYS | Galactosemia (GALCT) | Swiss-Prot | VAR_008043 | Disease | p.MET129THR | Galactosemia (GALCT) | Swiss-Prot | VAR_002575 | Disease | p.MET142VAL | Galactosemia (GALCT) | Swiss-Prot | VAR_002589 | Disease | p.PHE194LEU | Galactosemia (GALCT) | Swiss-Prot | VAR_002563 | Disease | p.PHE117SER | Galactosemia (GALCT) | Swiss-Prot | VAR_002583 | Disease | p.PHE171SER | Galactosemia (GALCT) | Swiss-Prot | VAR_008048 | Disease | p.PHE294TYR | Galactosemia (GALCT) | Swiss-Prot | VAR_068826 | Disease | p.PRO166ALA | Galactosemia (GALCT) | Swiss-Prot | VAR_068549 | Disease | p.PRO265ALA | Galactosemia (GALCT) | Swiss-Prot | VAR_068541 | Disease | p.PRO185HIS | Galactosemia (GALCT) | Swiss-Prot | VAR_068828 | Disease | p.PRO185LEU | Galactosemia (GALCT) | Swiss-Prot | VAR_002621 | Disease | p.PRO325LEU | Galactosemia (GALCT) | Swiss-Prot | VAR_068542 | Disease | p.PRO185SER | Galactosemia (GALCT) | Swiss-Prot | VAR_002620 | Disease | p.PRO324SER | Galactosemia (GALCT) | Swiss-Prot | VAR_002585 | Disease | p.PRO183THR | Galactosemia (GALCT) | Swiss-Prot | VAR_068540 | Disease | p.SER181ALA | Galactosemia (GALCT) | Swiss-Prot | VAR_068536 | Disease | p.SER112ARG | Galactosemia (GALCT) | Swiss-Prot | VAR_002588 | Disease | p.SER192ASN | Galactosemia (GALCT) | Swiss-Prot | VAR_068543 | Disease | p.SER192GLY | Galactosemia (GALCT) | Swiss-Prot | VAR_002571 | Disease | p.SER135LEU | Galactosemia (GALCT) | Swiss-Prot | VAR_002576 | Disease | p.SER143LEU | Galactosemia (GALCT) | Swiss-Prot | VAR_008042 | Disease | p.SER45LEU | Galactosemia (GALCT) | Swiss-Prot | VAR_068827 | Disease | p.SER181PHE | Galactosemia (GALCT) | Swiss-Prot | VAR_002623 | Disease | p.SER329PHE | Galactosemia (GALCT) | Swiss-Prot | VAR_023329 | Disease | p.SER135TRP | Galactosemia (GALCT) | Swiss-Prot | VAR_068532 | Disease | p.THR23ALA | Galactosemia (GALCT) | Swiss-Prot | VAR_002631 | Disease | p.THR350ALA | Galactosemia (GALCT) | Swiss-Prot | VAR_002572 | Disease | p.THR138MET | Galactosemia (GALCT) | Swiss-Prot | VAR_008044 | Disease | p.TRP167ARG | Galactosemia (GALCT) | Swiss-Prot | VAR_002602 | Disease | p.TRP249ARG | Galactosemia (GALCT) | Swiss-Prot | VAR_002582 | Disease | p.TRP154GLY | Galactosemia (GALCT) | Swiss-Prot | VAR_068535 | Disease | p.TYR34ASN | Galactosemia (GALCT) | Swiss-Prot | VAR_002618 | Disease | p.TYR323ASP | Galactosemia (GALCT) | Swiss-Prot | VAR_002596 | Disease | p.TYR209CYS | Galactosemia (GALCT) | Swiss-Prot | VAR_002603 | Disease | p.TYR251CYS | Galactosemia (GALCT) | Swiss-Prot | VAR_002619 | Disease | p.TYR323HIS | Galactosemia (GALCT) | Swiss-Prot | VAR_068824 | Disease | p.TYR89HIS | Galactosemia (GALCT) | Swiss-Prot | VAR_002597 | Disease | p.TYR209SER | Galactosemia (GALCT) | Swiss-Prot | VAR_002604 | Disease | p.TYR251SER | Galactosemia (GALCT) | Swiss-Prot | VAR_002567 | Disease | p.VAL125ALA | Galactosemia (GALCT) | Swiss-Prot | VAR_002581 | Disease | p.VAL151ALA | Galactosemia (GALCT) | Swiss-Prot | VAR_002580 | Disease | p.VAL150LEU | Galactosemia (GALCT) | Swiss-Prot | VAR_068538 | Disease | p.VAL168LEU | Galactosemia (GALCT) | Swiss-Prot | VAR_002551 | Disease | p.VAL44LEU | Galactosemia (GALCT) | Swiss-Prot | VAR_002552 | Disease | p.VAL44MET | Galactosemia (GALCT) | OMIM | 606999.0015 | Disease | p.ARG333GLY | GALACTOSEMIA | OMIM | 606999.0002 | Disease | p.ARG333TRP | GALACTOSEMIA | OMIM | 606999.0006 | Disease | p.GLN188ARG | GALACTOSEMIA | OMIM | 606999.0014 | Disease | p.GLU203LYS | GALACTOSEMIA | OMIM | 606999.0009 | Disease | p.HIS319GLN | GALACTOSEMIA | OMIM | 606999.0007 | Disease | p.LEU74PRO | GALACTOSEMIA | OMIM | 606999.0013 | Disease | p.LYS285ASN | GALACTOSEMIA | OMIM | 606999.0001 | Disease | p.MET142LYS | GALACTOSEMIA | OMIM | 606999.0016 | Disease | p.PHE194LEU | GALACTOSEMIA | OMIM | 606999.0008 | Disease | p.PHE171SER | GALACTOSEMIA | OMIM | 606999.0011 | Disease | p.PRO183THR | GALACTOSEMIA | OMIM | 606999.0010 | Disease | p.SER135LEU | GALACTOSEMIA | OMIM | 606999.0003 | Disease | p.VAL44MET | GALACTOSEMIA |
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
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