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Known Diseases associated with this Protein: | 3-@METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY
| METHYLCROTONOYL-COA CARBOXYLASE 1 DEFICIENCY (MCC1D)
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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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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_012785 | Disease | p.ALA289VAL | Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) | Swiss-Prot | VAR_067198 | Disease | p.ARG281GLN | Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) | Swiss-Prot | VAR_012787 | Disease | p.ARG385SER | Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) | Swiss-Prot | VAR_038631 | Polymorphism | p.ASN560THR | N/A | Swiss-Prot | VAR_012790 | Disease | p.ASP532HIS | Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) | Swiss-Prot | VAR_067197 | Disease | p.CYS276ARG | Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) | dbSNP | rs2270968 | Polymorphism | p.HIS464PRO | N/A | Swiss-Prot | VAR_012788 | Disease | p.LEU437PRO | Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) | Swiss-Prot | VAR_012786 | Disease | p.MET325ARG | Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) | Swiss-Prot | VAR_012791 | Disease | p.SER535PHE | Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) | OMIM | 609010.0002 | Disease | p.ARG385SER | 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY | OMIM | 609010.0003 | Disease | p.ASP532HIS | 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY | OMIM | 609010.0007 | Disease | p.ILE460MET | 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY | OMIM | 609010.0004 | Disease | p.LEU437PRO | 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY | OMIM | 609010.0001 | Disease | p.MET325ARG | 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY | OMIM | 609010.0005 | Disease | p.SER535PHE | 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY | OMIM | 609010.0006 | Disease | p.VAL694TER | 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 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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