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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_031823 | Disease | p.ASN215HIS | Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB) | Swiss-Prot | VAR_031899 | Disease | p.ASN215LYS | Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB) | Swiss-Prot | VAR_006945 | Disease | p.CYS388PHE | Gaucher disease, atypical, due to saposin C deficiency (AGD) | Swiss-Prot | VAR_006944 | Disease | p.CYS241SER | Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB) | Swiss-Prot | VAR_042441 | Disease | p.LEU349PRO | Gaucher disease, atypical, due to saposin C deficiency (AGD) | Swiss-Prot | VAR_006943 | Disease | p.THR217ILE | Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB) | OMIM | 176801.0007 | Disease | p.ASN215HIS | METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY | OMIM | 176801.0010 | Disease | p.CYS379GLY | GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY | OMIM | 176801.0004 | Disease | p.CYS382PHE | GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY | OMIM | 176801.0003 | Disease | p.CYS241SER | METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY | OMIM | 176801.0011 | Disease | p.GLN427TER | GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY | OMIM | 176801.0012 | Disease | p.LEU346PRO | GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY | OMIM | 176801.0001 | Disease | p.THR217ILE | METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B 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.
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